Publications
The first papers from CoLaus|PsyCoLaus were published in 2007. To date, more than 700 papers have been published in peer-reviewed journals. Results cover public health, cardiology, psychiatry and genetics.
713 results
Worldwide trends in underweight and obesity from 1990 to 2022: a pooled analysis of 3663 population-representative studies with 222 million children, adolescents, and adults.
BACKGROUND: Underweight and obesity are associated with adverse health outcomes throughout the life course. We estimated the individual and combined prevalence of underweight or thinness and obesity, and their changes, from 1990 to 2022 for adults and school-aged children and adolescents in 200…
Vitamin supplements: Are they associated with immune status?
BACKGROUND & AIMS: Vitamins are essential nutrients, taken in very small amounts (0.01-100 mg a day). Associations between vitamin supplement intake or status and the immune system are far from consensual. Our aim was to understand the association between vitamin supplements and the immune system,…
GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors.
OBJECTIVE: Suicidal behavior is heritable and is a major cause of death worldwide. Two large-scale genome-wide association studies (GWASs) recently discovered and cross-validated genome-wide significant (GWS) loci for suicide attempt (SA). The present study leveraged the genetic cohorts from both…
Role of sex and gender-related variables in development of metabolic syndrome: A prospective cohort study.
INTRODUCTION: The burden of metabolic syndrome (MetS) and its components has been increasing mainly amongst male individuals. Nevertheless, clinical outcomes related to MetS (i.e., cardiovascular diseases), are worse among female individuals. Whether these sex differences in the components and…
Spatial analysis of 10-year predicted risk and incident atherosclerotic cardiovascular disease: the CoLaus cohort.
Whether cardiovascular risk scores geographically aggregate and inform on spatial development of atherosclerotic cardiovascular diseases (ASCVD) remains unknown. Our aim is to determine the spatial distribution of 10-year predicted cardiovascular risk and ASCVD, and to compare the overlap of the…
Blood pressure status, trajectories and cardiovascular disease: the CoLaus|PsyCoLaus prospective study.
BACKGROUND: High blood pressure (BP) is a major risk factor for cardiovascular disease (CVD). Adequate treatment of high BP should reduce the risk of CVD, but this association has seldom been assessed in a general population setting. METHODS: Population-based prospective study conducted in Lausanne,…
Effect of dairy consumption on cognition in older adults: A population-based cohort study.
OBJECTIVE: We aimed to assess the effect on cognitive function of adding dairy (total, fermented, non-fermented, full fat, low fat, and sugary) to the diet and of substituting some food groups for dairy. DESIGN: Secondary analysis of a prospective population-based cohort study. PARTICIPANTS: We…
Prevalence of small airway dysfunction in the Swiss PneumoLaus Cohort.
BACKGROUND: Recent evidence identified exposure to particulate matter of size </=2.5 microm (PM(2.5)) as a risk factor for high prevalence of small airway dysfunction (SAD). We assessed the prevalence of SAD in a European region with low air pollution levels. METHODS: SAD was defined as a maximum…
It needs more than a myocardial infarction to start exercising: the CoLaus|PsyCoLaus prospective study.
BACKGROUND: Increased physical activity (PA) is recommended after an acute coronary event to prevent recurrences. Whether patients with acute coronary event actually increase their PA has not been assessed using objective methods such as accelerometer. We aimed to assess the subjectively and…
Cholesterol-metabolism, plant sterols, and long-term cognitive decline in older people - Effects of sex and APOEe4.
Neurodegenerative, vascular, and dementia diseases are linked to dysregulations in cholesterol metabolism. Dietary plant sterols, or phytosterols, may interfere to neurodegeneration and cognitive decline, and have cholesterol-lowering, anti-inflammatory, and antioxidant qualities. Here, we…
Relationship between dietary characteristics and heel quantitative ultrasound parameters in postmenopausal women from the OsteoLaus cohort.
The role of dietary patterns in the development of osteoporosis is unclear. The heel quantitative ultrasound (QUS) is a potential alternative to Dual X-Ray Absorptiometry. Nutrients, foods, dietary patterns and compliance to dietary guidelines were compared between the lowest and the highest…
Cannabis use and atherosclerotic cardiovascular disease: a Mendelian randomization study.
BACKGROUND: Association between cannabis use and development of atherosclerotic cardiovascular disease (ASCVD) is inconsistent and challenging to interpret, given existing study limitations. METHODS: Sixty five independent single-nucleotide polymorphisms (SNPs), obtained from a genome-wide…
Obstructive sleep apnea and cognitive functioning in the older general population: The moderating effect of age, sex, ApoE4, and obesity.
Research on the relationship between obstructive sleep apnea and cognitive functioning has yielded conflicting results, particularly in the older population, and moderators of this association have rarely been studied. Here we investigated the cross-sectional association between obstructive sleep…
Subtypes of major depressive disorders and objectively measured physical activity and sedentary behaviors in the community.
BACKGROUND: Lack of physical activity (PA) and high sedentary behavior (SB) may enhance mental health problems, including depression, and are associated with increased mortality. Aside from a large body of research on major depressive disorder (MDD) assessed as an entity and either PA or SB, few…
Comparison of the European and US guidelines for lipid-lowering therapy in primary prevention of cardiovascular disease.
AIMS: Population-wide impacts of new guidelines in the primary prevention of atherosclerotic cardiovascular disease (ASCVD) should be explored in independent cohorts. Assess and compare the lipid-lowering therapy eligibility and predictive classification performance of 2016 and 2021 European Society…
Utility of iron biomarkers in differentiating menopausal status: Findings from CoLaus and PREVEND.
AIM: To examine the association of iron biomarkers with menopausal status and assess whether these biomarkers can help differentiate menopausal status beyond age. METHODS: In this cross-sectional study we included 1679 women from the CoLaus and 2133 from the PREVEND cohorts, with CoLaus used as…
Healthy sleep score changes and incident cardiovascular disease in European prospective community-based cohorts.
BACKGROUND AND AIMS: Evidence on the link between sleep patterns and cardiovascular diseases (CVDs) in the community essentially relies on studies that investigated one single sleep pattern at one point in time. This study examined the joint effect of five sleep patterns at two time points with…
Sweet dreams are not made of this: no association between diet and sleep quality.
STUDY OBJECTIVES: Numerous studies have emphasized the significance of nutrition on the quality of sleep, but few have evaluated the effect of various coexisting dietary markers on middle-aged adults. We assessed the association between sleep quality and a large array of dietary markers among…
Association between Total Dietary Phytochemical Intake and Cardiometabolic Health Outcomes-Results from a 10-Year Follow-Up on a Middle-Aged Cohort Population.
Dietary phytochemical intake associations with cardiovascular health and mortality remain unknown. We studied the relations between total dietary phytochemical intake and cardiovascular health outcomes in a middle-aged Swiss population. We analyzed data spanning 2009 to 2021 from a prospective…
Sleep well, but be active. Effect of sleep and sedentariness on incidence of diabetes.
AIMS: We aimed to determine the individual effect of long/short sleep and of inactivity on diabetes risk using data from a population-based prospective study in Switzerland. METHODS: Prospective study with a median (min-max) follow-up of 9 (2.4-11.5) years. Incident diabetes was defined based on 1)…
Impact of Mediterranean Diet on Lipid Composition in the Colaus-PsyColaus Study.
High adherence to the Mediterranean diet (MD) has been associated with lower incidence of cardiovascular disease, increased HDL-cholesterol levels, and decreased triglycerides (TG), and total and LDL cholesterol levels. We aimed to assess the association of MD adherence at baseline with the lipid…
Sugar-sweetened beverage intakes among adults between 1990 and 2018 in 185 countries.
Sugar-sweetened beverages (SSBs) are associated with cardiometabolic diseases and social inequities. For most nations, recent estimates and trends of intake are not available; nor variation by education or urbanicity. We investigated SSB intakes among adults between 1990 and 2018 in 185 countries,…
Genetic risk scores: are they important for diabetes management? results from multiple cross-sectional studies.
BACKGROUND: Several genetic risk scores (GRS) for type 2 diabetes (T2DM) have been published, but not replicated. We aimed to 1) replicate previous findings on the association between GRS on prevalence of T2DM and 2) assess the association between GRS and T2DM management in a sample of…
Relationship Between Effort-Reward Imbalance, Over-Commitment and Occupational Burnout in the General Population: A Prospective Cohort Study.
Objectives: To prospectively investigate the association between Effort-Reward Imbalance (ERI) and over-commitment and the scores of the burnout dimensions over a 4 years follow-up period considering potential confounders. Methods: Data stemmed from CoLaus|PsyCoLaus, a population-based cohort study…
Association between dietary phytochemical index, cardiometabolic risk factors and metabolic syndrome in Switzerland. The CoLaus study.
BACKGROUND AND AIMS: Plant-based diets are associated with reduced cardiometabolic risk factors (CRFs) and lower risk of metabolic syndrome (MetS), probably via phytochemicals acting synergistically. However, dietary phytochemical content estimation is challenging; therefore, the dietary…
Corrigendum to "Periodic leg movements during sleep and cognitive functioning in the older general population" [Sleep Med 109 (2023) 197-201].
Vitamin D Levels Are Associated with Cardiovascular Disease Events but Not with Cardiovascular Disease or Overall Mortality: A Prospective Population-Based Study.
(1) Background: A recent review concluded that there was no strong evidence for beneficial vitamin D effects on cardiovascular disease (CVD) risk, but whether individuals with vitamin D deficiency have a higher risk of CVD should be further studied. (2) Aims: We assessed the association between…
Impact of the COVID-19 pandemic on CVD prevention between different socioeconomic groups in Switzerland.
BACKGROUND: The COVID-19 pandemic disrupted the continuing management of cardiovascular disease (CVD) risk factors in the population. Socioeconomic status (SES) is a major determinant of health. Whether the COVID-19 pandemic increased, the SES gap in CVD risk factors is unknown. AIMS: To compare the…
[Chronic pain, a clumsy body language].
Early psychological factors, including childhood traumas and personality, play a crucial role in the emergence and persistence of painful symptoms and appears to be frequent in patients with nociplastic pain. Patient care involves validating the reality of their pain and identifying various facets…
Psychiatric disorders, personality traits, and childhood traumatic events predicting incidence and persistence of chronic pain: results from the CoLaus|PsyCoLaus study.
Chronic pain (CP) is often accompanied by mental disorders (MDs). However, little is known concerning the long-term effect of MDs, personality traits, and early-life traumatic events (ETEs) on CP course. Accordingly, we aimed to prospectively assess the associations of major depressive disorders…
Genetic insights into resting heart rate and its role in cardiovascular disease.
Resting heart rate is associated with cardiovascular diseases and mortality in observational and Mendelian randomization studies. The aims of this study are to extend the number of resting heart rate associated genetic variants and to obtain further insights in resting heart rate biology and its…
Obstructive sleep apnea, circulating microRNAs, and risk of cardiovascular disease.
OBJECTIVE: while obstructive sleep apnea is strongly associated with incident cardiovascular diseases (CVD), the underlying mechanisms remain to be elucidated. This study aimed to compare the patterns of microRNAs expression between OSA and control patients with and without incident CVD. METHODS:…
Heel quantitative ultrasound (QUS) predicts incident fractures independently of trabecular bone score (TBS), bone mineral density (BMD), and FRAX: the OsteoLaus Study.
This study aimed to better define the role of heel-QUS in fracture prediction. Our results showed that heel-QUS predicts fracture independently of FRAX, BMD, and TBS. This corroborates its use as a case finding/pre-screening tool in osteoporosis management. INTRODUCTION: Quantitative ultrasound…
Correlates of chronic depression in the general population: results from the CoLaus|PsyCoLaus study.
PURPOSE: Previous population-based studies have partially provided inconsistent results regarding the co-variates of chronic depression, which were likely to be attributable to methodological limitations. The present paper that compared people with chronic major depressive disorder (MDD),…
No association between genetic markers and hypertension control in multiple cross-sectional studies.
We aimed to assess whether genetic markers are associated with hypertension control using two cross-sectional surveys conducted in Lausanne, Switzerland. Management of hypertension was assessed as per ESC guidelines using the 140/90 or the 130/80 mm Hg thresholds. One genetic risk score (GRS) for…
Periodic leg movements during sleep and cognitive functioning in the older general population.
OBJECTIVE: The current evidence of a relationship between periodic leg movements during sleep (PLMS) and cognitive functioning is limited and inconsistent. This cross-sectional study assessed associations between PLMS and cognitive functioning among community-dwelling older adults. METHODS: We…
Association between Mediterranean Diet and Type 2 Diabetes: Multiple Cross-Sectional Analyses.
AIM: To assess whether the Mediterranean diet (MD) is associated with lower levels of type 2 diabetes (T2D) in a non-Mediterranean population. METHODS: Cross-sectional analysis of follow-ups 1 (FU1, 2009-2012, n = 4398, 45.7% men, 57.7 +/- 10.5 years), 2 (FU2, 2014-2017, n = 3154, 45.0% men, 61.7…
How ambient temperature affects mood: an ecological momentary assessment study in Switzerland.
BACKGROUND: Recent research has suggested that an increase in temperature can negatively affect mental health and increase hospitalization for mental illness. It is not clear, however, what factors or mechanisms mediate this association. We aimed to (1) investigate the associations between ambient…
Polygenic risk prediction: why and when out-of-sample prediction R(2) can exceed SNP-based heritability.
In polygenic score (PGS) analysis, the coefficient of determination (R(2)) is a key statistic to evaluate efficacy. R(2) is the proportion of phenotypic variance explained by the PGS, calculated in a cohort that is independent of the genome-wide association study (GWAS) that provided estimates of…
Pulse Wave Amplitude Drops Index: A Biomarker of Cardiovascular Risk in Obstructive Sleep Apnea.
Rationale: It is currently unclear which patients with obstructive sleep apnea (OSA) are at increased cardiovascular risk. Objective: To investigate the value of pulse wave amplitude drops (PWADs), reflecting sympathetic activations and vasoreactivity, as a biomarker of cardiovascular risk in OSA.…
Genome-wide association analysis identifies ancestry-specific genetic variation associated with acute response to metformin and glipizide in SUGAR-MGH.
AIMS/HYPOTHESIS: Characterisation of genetic variation that influences the response to glucose-lowering medications is instrumental to precision medicine for treatment of type 2 diabetes. The Study to Understand the Genetics of the Acute Response to Metformin and Glipizide in Humans (SUGAR-MGH)…
Stability of the Subtypes of Major Depressive Disorder in Older Adults and the Influence of Mild Cognitive Impairment on the Stability.
OBJECTIVES: To assess 1) the longitudinal stability of the atypical, melancholic, combined atypical-melancholic and the unspecified subtypes of major depressive disorder (MDD) according to the diagnostic and statistical manual of mental disorders (DSM -IV) specifiers in older adults, and 2) the…
Towards a consensus definition of allostatic load: a multi-cohort, multi-system, multi-biomarker individual participant data (IPD) meta-analysis.
BACKGROUND: Allostatic load (AL) is a multi-system composite index for quantifying physiological dysregulation caused by life course stressors. For over 30 years, an extensive body of research has drawn on the AL framework but has been hampered by the lack of a consistent definition. METHODS: This…
Early menopause and cardiovascular risk factors: a cross-sectional and longitudinal study.
OBJECTIVE: The aim of the study is to evaluate the cross-sectional and longitudinal association of early natural menopause with changes in cardiovascular risk factors (CVRFs). METHODS: Postmenopausal women from the Swiss CoLaus study, reporting age at natural menopause (ANM) and having CVRFs…
Plant sterols and cholesterol metabolism are associated with five-year cognitive decline in the elderly population.
Dysregulations in cholesterol metabolism are associated with neurodegenerative and vascular pathologies, and dementia. Diet-derived plant sterols (phytosterols) have cholesterol-lowering, anti-inflammatory, and antioxidant properties and may interfere with neurodegeneration and cognitive decline.…
Objectively assessed sleep and physical activity in depression subtypes and its mediating role in their association with cardiovascular risk factors.
The aims of this study were to investigate the associations of major depressive disorder (MDD) and its subtypes (atypical, melancholic, combined, unspecified) with actigraphy-derived measures of sleep, physical activity and circadian rhythms; and test the potentially mediating role of sleep,…
Combining European and U.S. risk prediction models with polygenic risk scores to refine cardiovascular prevention: the CoLaus|PsyCoLaus Study.
AIMS: A polygenic risk score (PRS) has the potential to improve individual atherosclerotic cardiovascular disease (ASCVD) risk assessment. To determine whether a PRS combined with two clinical risk scores, the Systematic COronary Risk Evaluation 2 (SCORE2) and the Pooled Cohort Equation (PCE)…
Trends in glycemic, blood pressure, and lipid control in adults with diabetes in Switzerland: the CoLaus|PsyCoLaus Study.
AIM: To assess the 15-year trends in the level of glycemic, blood pressure, and cholesterol control in adults with diabetes in a Swiss population-based cohort. RESEARCH DESIGN AND METHODS: CoLaus|PsyCoLaus is a prospective cohort study of 6733 adults aged 35-75 years in Lausanne, Switzerland.…
Global dietary quality in 185 countries from 1990 to 2018 show wide differences by nation, age, education, and urbanicity.
Evidence on what people eat globally is limited in scope and rigour, especially as it relates to children and adolescents. This impairs target setting and investment in evidence-based actions to support healthy sustainable diets. Here we quantified global, regional and national dietary patterns…
Network analysis of the associations between personality traits, cognitive functioning, and inflammatory markers in elderly individuals without dementia.
INTRODUCTION: Lower cognitive functioning in old age has been associated with personality traits or systemic inflammatory markers. Associations have also been found between personality traits and inflammatory markers. However, no study has explored the inter-relationships between these three…
Obstructive sleep apnoea and 5-year cognitive decline in the elderly.
BACKGROUND: The relationship between obstructive sleep apnoea (OSA) and cognitive decline remains controversial, especially in the elderly population. We used data from the HypnoLaus study to assess associations between OSA and longitudinal cognitive changes in a sample of community-dwelling elderly…
Children's and adolescents' rising animal-source food intakes in 1990-2018 were impacted by age, region, parental education and urbanicity.
Animal-source foods (ASF) provide nutrition for children and adolescents' physical and cognitive development. Here, we use data from the Global Dietary Database and Bayesian hierarchical models to quantify global, regional and national ASF intakes between 1990 and 2018 by age group across 185…
Objective polysomnography-based sleep features and major depressive disorder subtypes in the general population.
Insomnia and its opposite hypersomnia are part of the diagnostic criteria for major depressive disorder (MDD). However, no study has investigated whether the postulated sleep alterations in clinical subtypes of MDD are reflected in polysomnography (PSG)-derived objective sleep measures. The…
Incident type 2 diabetes attributable to suboptimal diet in 184 countries.
The global burden of diet-attributable type 2 diabetes (T2D) is not well established. This risk assessment model estimated T2D incidence among adults attributable to direct and body weight-mediated effects of 11 dietary factors in 184 countries in 1990 and 2018. In 2018, suboptimal intake of these…
The genetic etiology of periodic limb movement in sleep.
STUDY OBJECTIVES: Periodic limb movement in sleep is a common sleep phenotype characterized by repetitive leg movements that occur during or before sleep. We conducted a genome-wide association study (GWAS) of periodic limb movements in sleep (PLMS) using a joint analysis (i.e., discovery,…
Long-Term Consequences of COVID-19: A 1-Year Analysis.
Long-lasting symptoms after SARS-CoV-2 infection have been described many times in the literature and are referred to as Long COVID. In this prospective, longitudinal, monocentric, observational study, we collected the health complaints of 474 patients (252 ambulatory and 222 hospitalized) at…
Topography of associations between cardiovascular risk factors and myelin loss in the ageing human brain.
Our knowledge of the mechanisms underlying the vulnerability of the brain's white matter microstructure to cardiovascular risk factors (CVRFs) is still limited. We used a quantitative magnetic resonance imaging (MRI) protocol in a single centre setting to investigate the cross-sectional association…
Life-course socioeconomic conditions and cognitive performance in older adults: a cross-cohort comparison.
OBJECTIVES: Socioeconomic disadvantage predicts the level of cognitive performance in old age, but findings have been mixed for trajectories of performance. This study examined associations between life-course socioeconomic conditions, including social mobility, and cognitive performance assessed in…
A saturated map of common genetic variants associated with human height.
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40-50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sample sizes(1). Here, using data from a genome-wide association study of 5.4 million…
Uncovering the genetic architecture of broad antisocial behavior through a genome-wide association study meta-analysis.
Despite the substantial heritability of antisocial behavior (ASB), specific genetic variants robustly associated with the trait have not been identified. The present study by the Broad Antisocial Behavior Consortium (BroadABC) meta-analyzed data from 28 discovery samples (N = 85,359) and five…
Identification of physical activity and sedentary behaviour dimensions that predict mortality risk in older adults: Development of a machine learning model in the Whitehall II accelerometer sub-study and external validation in the CoLaus study.
BACKGROUND: Identification of new physical activity (PA) and sedentary behaviour (SB) features relevant for health at older age is important to diversify PA targets in guidelines, as older adults rarely adhere to current recommendations focusing on total duration. We aimed to identify…
Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.
BACKGROUND: Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as…
Prevalence and predictors of psychological distress before, during, and after a COVID-19 pandemic wave in Switzerland, 2021.
There are concerns about acute and long-term mental health effects of the COVID-19 pandemic. This study examined the prevalence and predictors of psychological distress before, during, and after a pandemic wave in Switzerland, 2021. Prevalence of psychological distress was estimated in adults aged…
Association of clinical and genetic risk factors with management of dyslipidaemia: analysis of repeated cross-sectional studies in the general population of Lausanne, Switzerland.
OBJECTIVES: To assess the importance of clinical and genetic factors in management of dyslipidaemia in the general population. DESIGN: Repeated cross-sectional studies (2003-2006; 2009-2012 and 2014-2017) from a population-based cohort. SETTING: Single centre in Lausanne, Switzerland. PARTICIPANTS:…
Vitamin D and Weight Change: A Mendelian Randomization, Prospective Study.
The association between 25-hydroxyvitamin D and 5-, 10-, or 15-year weight change were assessed in a population-based, prospective study conducted in Lausanne, Switzerland. Data from the first (2009-2012, N = 3527, 51.3% women), second (2014-2017, N = 3237, 53.8% women), and third (2018-2021, N =…
The combined impact of persistent infections and human genetic variation on C-reactive protein levels.
Multiple human pathogens establish chronic, sometimes life-long infections. Even if they are often latent, these infections can trigger some degree of local or systemic immune response, resulting in chronic low-grade inflammation. There remains an incomplete understanding of the potential…
Ten-Year Evolution of Statin Eligibility and Use in a Population-Based Cohort.
Studies showing that the management of dyslipidemia is suboptimal are hampered by their cross-sectional design or short follow-up. Using recent data from a population-based cohort with a 10-year follow-up, we assessed the use of statins, including their intensity. We used data from the…
Comparison of different software for processing physical activity measurements with accelerometry.
Several raw-data processing software for accelerometer-measured physical activity (PA) exist, but whether results agree has not been assessed. We examined the agreement between three different software for raw accelerometer data, and associated their results with cardiovascular risk. A…
Associations of genetic and infectious risk factors with coronary heart disease.
Coronary heart disease (CHD) is one of the most pressing health problems of our time and a major cause of preventable death. CHD results from complex interactions between genetic and environmental factors. Using multiplex serological testing for persistent or frequently recurring infections and…
Temporal Trends in Low-Dose Aspirin Use (from the CoLaus|PsyCoLaus Study).
Although established in secondary prevention, the use of low-dose aspirin for primary cardiovascular prevention remains uncertain. We assessed the temporal trend of low-dose aspirin use in people at primary and secondary prevention over 14 years. We used data from the population-based…
Prevalence of atrial fibrillation : The Swiss population-based CoLaus|PsyCoLaus study.
BACKGROUND: Atrial fibrillation (AF) is the most common arrhythmia worldwide and is associated with increased morbi-mortality. The prevalence of AF in the Western world is increasing; however, reports on the prevalence of AF in the past decade are scarce, and whether the prevalence of AF increased…
Abnormal brain iron accumulation in obstructive sleep apnea: A quantitative MRI study in the HypnoLaus cohort.
Obstructive sleep apnea syndrome (OSA) may be a risk factor for Alzheimer's disease. One of the hallmarks of Alzheimer's disease is disturbed iron homeostasis leading to abnormal iron deposition in brain tissue. To date, there is no empirical evidence to support the hypothesis of altered brain iron…
The personality traits activity, self-reproach, and negative affect jointly predict clinical recurrence, depressive symptoms, and low quality of life in inflammatory bowel disease patients.
BACKGROUND: The bidirectional "gut-brain axis" has been implicated in the pathogenesis of inflammatory bowel diseases (IBD). While the influence of stress and depressive symptoms on IBD is well-characterized, the role of personality remains insufficiently investigated. METHODS: Personality was…
Associations between Hunger and Psychological Outcomes: A Large-Scale Ecological Momentary Assessment Study.
Studies assessing the association between hunger and psychological states have been conducted in laboratory settings, or limited to persons with eating disorders. In this study, 748 community-dwelling adults (56.4% women, 60.0 +/- 9.3 years) completed the Ecological Momentary Assessment four times a…
Sleep spindles in people with schizophrenia, schizoaffective disorders or bipolar disorders: a pilot study in a general population-based cohort.
BACKGROUND: Sleep spindles have been involved in sleep stabilization and sleep-related memory mechanisms and their deficit emerged as possible biomarker in schizophrenia. However, whether this sleep phenotype is also present in other disorders that share psychotic symptoms remains unclear. To…
Associations Between Life-Course Socioeconomic Conditions and the Pace of Aging.
BACKGROUND: Socioeconomic disadvantage is a well-established predictor of morbidity and mortality, and is thought to accelerate the aging process. This study examined associations between life-course socioeconomic conditions and the Pace of Aging, a longitudinal measure of age-related physiological…
Aging and hypertension in kidney function decline: A 10 year population-based study.
BACKGROUND: Aging is associated with a physiological decline in kidney function (KFD). In this study, we aimed to describe the impact of age on the rate of KFD and its interplay with risk factors for chronic kidney disease (CKD), considering mainly hypertension (HT), in the general population.…
Does reproductive stage impact cardiovascular disease risk factors? Results from a population-based cohort in Lausanne (CoLaus study).
CONTEXT: Menopause has been associated with adverse cardiovascular disease (CVD) risk profile, yet it is unclear whether the changes in CVD risk factors differ by reproductive stage independently of underlying ageing trajectories. DESIGN: The CoLaus study is a prospective population-based cohort…
Association between anthropometric markers of adiposity, adipokines and vitamin D levels.
Inverse association between serum levels of vitamin D and obesity has been pointed out in several studies. Our aim was to identify to the associations between vitamin D levels and a large panel of anthropometric markers and adipokines. Cross-sectional study including 6485 participants.…
Differential Blood Counts Do Not Consistently Predict Clinical Measurements of Bone Mineral Density and Microarchitecture at Homeostasis.
The hematopoietic stem cell niche constitutes a complex bone marrow (BM) microenvironment. Osteoporosis is characterized by both reduced bone mineral density (BMD) and microarchitectural deterioration, constituting the most frequent alteration of the BM microenvironment. It is unclear to which…
Associations between exploratory dietary patterns and incident type 2 diabetes: a federated meta-analysis of individual participant data from 25 cohort studies.
PURPOSE: In several studies, exploratory dietary patterns (DP), derived by principal component analysis, were inversely or positively associated with incident type 2 diabetes (T2D). However, findings remained study-specific, inconsistent and rarely replicated. This study aimed to investigate the…
Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention.
Although physical activity and sedentary behavior are moderately heritable, little is known about the mechanisms that influence these traits. Combining data for up to 703,901 individuals from 51 studies in a multi-ancestry meta-analysis of genome-wide association studies yields 99 loci that…
Associations between anxiety disorders and diet quality in a Swiss cohort study.
OBJECTIVES: Anxiety disorders are common in the general population and can have a major impact on a person's behavior. These disorders may also affect shopping and cooking habits, which may lead to a less healthy diet. Thus, we aimed to assess whether any current anxiety disorder or current specific…
Associations of indicators of sleep impairment and disorders with low muscle strength in middle-aged and older adults: The HypnoLaus cohort study.
OBJECTIVE: Investigate associations of objective and subjective indicators of sleep impairment and disorders with low muscle strength (LMS) in different age groups and genders using data from a population-based cohort study. METHODS: Polysomnographic and subjective sleep data from participants (aged…
The neighborhood environment and its association with the spatio-temporal footprint of tobacco consumption and changes in smoking-related behaviors in a Swiss urban area.
This study aimed to evaluate the association of the neighborhood environment with the spatio-temporal dependence of tobacco consumption and changes in smoking-related behaviors in a Swiss urban area. Data were obtained from the CoLaus cohort (2003-2006, 2009-2012, and 2014-2017) in Lausanne,…
CYP2C19 expression modulates affective functioning and hippocampal subiculum volume-a large single-center community-dwelling cohort study.
Given controversial findings of reduced depressive symptom severity and increased hippocampus volume in CYP2C19 poor metabolizers, we sought to provide empirical evidence from a large-scale single-center longitudinal cohort in the community-dwelling adult population-Colaus|PsyCoLaus in Lausanne,…
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids.
A major challenge of genome-wide association studies (GWASs) is to translate phenotypic associations into biological insights. Here, we integrate a large GWAS on blood lipids involving 1.6 million individuals from five ancestries with a wide array of functional genomic datasets to discover…
Association between chronic pain and physical activity in a Swiss population-based cohort: a cross-sectional study.
OBJECTIVE: To assess the bidirectional association between chronic pain and both subjectively and objectively measured physical activity (PA). DESIGN: Cross-sectional study. SETTING: Population-based sample in Lausanne, Switzerland, May 2014 to April 2017. PARTICIPANTS: Non-stratified,…
Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals.
Reduced glomerular filtration rate (GFR) can progress to kidney failure. Risk factors include genetics and diabetes mellitus (DM), but little is known about their interaction. We conducted genome-wide association meta-analyses for estimated GFR based on serum creatinine (eGFR), separately for…
Identifying the Common Genetic Basis of Antidepressant Response.
Background: Antidepressants are a first-line treatment for depression. However, only a third of individuals experience remission after the first treatment. Common genetic variation, in part, likely regulates antidepressant response, yet the success of previous genome-wide association studies has…
SAS CARE 1: Sleep architecture changes in a cohort of patients with Ischemic Stroke/TIA.
OBJECTIVE: Changes in sleep architecture following ischemic stroke have been poorly investigated. Our objective was to explore changes of sleep structure in patients with ischemic stroke or transient ischemic attack in order to verify a possible predictive value of sleep with respect to clinical…
Association Between Sleep Microstructure and Incident Hypertension in a Population-Based Sample: The HypnoLaus Study.
Background Poor sleep quality is associated with increased incident hypertension. However, few studies have investigated the impact of objective sleep structure parameters on hypertension. This study investigated the association between sleep macrostructural and microstructural parameters and…
Serum Phytosterols Are Not Associated with Inflammatory Markers in Two Cross-Sectional, Swiss Population-Based Studies (The CoLaus|PsyCoLaus Study).
BACKGROUND: The association between inflammation and dietary sterols remains poorly assessed at the population level. AIMS: To assess the possible association between serum levels of various phytosterols (PS) and inflammatory markers. METHODS: Serum levels of six PS (campesterol, campestanol,…
Respiratory Polygraphy Patterns and Risk of Recurrent Cardiovascular Events in Patients With Acute Coronary Syndrome.
Introduction: Obstructive sleep apnea (OSA) severity is based on the apnea-hypopnea index (AHI). The AHI is a simplistic measure that is inadequate for capturing disease severity and its consequences in cardiovascular diseases (CVDs). Deleterious effects of OSA have been suggested to influence the…
Association between genetic risk of high SBP and hypertension control: the CoLaus|PsyColaus study.
OBJECTIVE: To assess whether a genetic risk score (GRS) for high SBP is associated with poor control of hypertension. METHODS: Data from the four waves of a population-based, prospective study conducted in Lausanne, Switzerland. Control of hypertension was defined based on SBP less than 140 mmHg and…
The fracture predictive ability of lumbar spine BMD and TBS as calculated based on different combinations of the lumbar spine vertebrae.
Lumbar spine bone mineral density (BMD) and trabecular bone score (TBS) are both calculated on L1-L4 vertebrae. This study investigated the ability to predict osteoporotic fractures of BMD and TBS as calculated based on all possible adjacent L1-L4 vertebrae combinations. Present findings indicate…
Development of a manufacturer-independent convolutional neural network for the automated identification of vertebral compression fractures in vertebral fracture assessment images using active learning.
BACKGROUND: Convolutional neural networks (CNNs) can identify vertebral compression fractures in GE vertebral fracture assessment (VFA) images with high balanced accuracy, but performance against Hologic VFAs is unknown. To obtain good classification performance, supervised machine learning requires…
Association of adiposity evaluated by anthropometric, BIA, and DXA measures with cardiometabolic risk factors in nonobese postmenopausal women: the CoLaus/OsteoLaus cohort.
OBJECTIVE: After menopause, body composition changes with body fat accumulation, and an increase in cardiometabolic risk factors. Total fat mass, regional fat mass, and visceral adipose tissue (VAT) may be estimated with anthropometric measures, bioelectrical impedance analysis (BIA), and…
The power of genetic diversity in genome-wide association studies of lipids.
Increased blood lipid levels are heritable risk factors of cardiovascular disease with varied prevalence worldwide owing to different dietary patterns and medication use(1). Despite advances in prevention and treatment, in particular through reducing low-density lipoprotein cholesterol levels(2),…
Global, regional, and national consumption of animal-source foods between 1990 and 2018: findings from the Global Dietary Database.
BACKGROUND: Diet is a major modifiable risk factor for human health and overall consumption patterns affect planetary health. We aimed to quantify global, regional, and national consumption levels of animal-source foods (ASF) to inform intervention, surveillance, and policy priorities. METHODS:…
Association of neighbourhood disadvantage and individual socioeconomic position with all-cause mortality: a longitudinal multicohort analysis.
BACKGROUND: Few studies have examined the interactions between individual socioeconomic position and neighbourhood deprivation and the findings so far are heterogeneous. Using a large sample of diverse cohorts, we investigated the interaction effect of neighbourhood socioeconomic deprivation and…
Association between nocturnal heart rate variability and incident cardiovascular disease events: The HypnoLaus population-based study.
BACKGROUND: Although heart rate variability (HRV) is widely used to assess cardiac autonomic function, few studies have specifically investigated nocturnal HRV. OBJECTIVE: The purpose of this study was to assess the association between nocturnal HRV and cardiovascular disease (CVD) incidence over 4…
Improving polygenic prediction with genetically inferred ancestry.
Genome-wide association studies (GWASs) have demonstrated that most common diseases have a strong genetic component from many genetic variants each with a small effect size. GWAS summary statistics have allowed the construction of polygenic scores (PGSs) estimating part of the individual risk for…
A novel EEG marker predicts perceived SLEEPINESS AND poor sleep quality.
STUDY OBJECTIVES: To determine if a novel EEG-derived continuous index of sleep depth/alertness, the odds ratio product (ORP), predicts self-reported daytime sleepiness and poor sleep quality in two large population-based cohorts. METHODS: ORP values which range from 0 (deep sleep) to 2.5 (fully…
Cardiovascular risk assessment in people living with HIV compared to the general population.
AIMS: We prospectively assessed and compared the accuracy of cardiovascular risk scores in people living with HIV (PLWH) and individuals from the general population. METHODS AND RESULTS: The Systematic Coronary Risk Evaluation Score 2 (SCORE2), the Pooled Cohort Equations (PCE), and the HIV-specific…
Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals.
We conduct a genome-wide association study (GWAS) of educational attainment (EA) in a sample of ~3 million individuals and identify 3,952 approximately uncorrelated genome-wide-significant single-nucleotide polymorphisms (SNPs). A genome-wide polygenic predictor, or polygenic index (PGI), explains…
Signatures of life course socioeconomic conditions in brain anatomy.
Socioeconomic status (SES) plays a significant role in health and disease. At the same time, early-life conditions affect neural function and structure, suggesting the brain may be a conduit for the biological embedding of SES. Here, we investigate the brain anatomy signatures of SES in a…
Healthcare use for major depressive disorders among middle-aged and older adults in the community.
PURPOSE: There is a substantial gap between people having a mental disorder and those treated for this disorder. Studies that assessed the influence of age on healthcare use for major depressive disorder (MDD) have provided inconsistent results. We aimed to assess healthcare use in terms of…
The association between objective sleep duration and diet. The CoLaus|HypnoLaus study.
BACKGROUND AND AIMS: Sleep deprivation is frequently associated with an unhealthy diet. So far, most studies used reported sleep duration. We assessed the associations between objectively measured sleep duration and dietary intake. METHODS: Cross-sectional study conducted between 2009 and 2013 on…
Impact of night and shift work on metabolic syndrome and its components: a cross-sectional study in an active middle-to-older-aged population-based sample.
OBJECTIVES: To examine the effects of work schedules on metabolic syndrome and its components in active middle-to-older-aged workers. METHODS: A cross-sectional analysis including middle-to-older-aged active workers from the population-based CoLaus|PsyCoLaus study (Lausanne, Switzerland) was…
Geographic clusters of objectively measured physical activity and the characteristics of their built environment in a Swiss urban area.
INTRODUCTION: Evidence suggests that the built environment can influence the intensity of physical activity. However, despite the importance of the geographic context, most of the studies do not consider the spatial framework of this association. We aimed to assess individual spatial dependence of…
Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors.
BACKGROUND: Suicide is a leading cause of death worldwide, and nonfatal suicide attempts, which occur far more frequently, are a major source of disability and social and economic burden. Both have substantial genetic etiology, which is partially shared and partially distinct from that of related…
Thyroid-stimulating hormone is associated with trabecular bone score and 5-year incident fracture risk in euthyroid postmenopausal women: the OsteoLaus cohort.
Thyroid-stimulating hormone (TSH) excess or deficiency influences bone density and fracture risk. Nevertheless, does TSH in the reference range influence bone health? In euthyroid postmenopausal women, TSH levels in the reference range were positively associated with trabecular bone score and…
Prevalence and factors associated with chronic use of levothyroxine: A cohort study.
IMPORTANCE: Levothyroxine prescriptions are rising worldwide. However, there are few data on factors associated with chronic use. OBJECTIVE: To assess the prevalence of chronic levothyroxine use, its rank among other chronic drugs and factors associated with chronic use. To assess the proportion of…
Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders.
BACKGROUND: Sex differences in incidence and/or presentation of schizophrenia (SCZ), major depressive disorder (MDD), and bipolar disorder (BIP) are pervasive. Previous evidence for shared genetic risk and sex differences in brain abnormalities across disorders suggest possible shared sex-dependent…
Mendelian randomization to assess causality between uromodulin, blood pressure and chronic kidney disease.
UMOD variants associated with higher levels of urinary uromodulin (uUMOD) increase the risk of chronic kidney disease (CKD) and hypertension. However, uUMOD levels also reflect functional kidney tubular mass in observational studies, questioning the causal link between uromodulin production and…
Short-term and long-term effects of major depressive disorder subtypes on obesity markers and impact of sex on these associations.
BACKGROUND: Only a few studies with conflicting results have examined the effects of sex on the prospective association between depression and subsequent obesity. OBJECTIVE: (1) To simultaneously assess the associations of the subtypes (atypical, melancholic, unspecified) of major depressive…
A Comparison of Ten Polygenic Score Methods for Psychiatric Disorders Applied Across Multiple Cohorts.
BACKGROUND: Polygenic scores (PGSs), which assess the genetic risk of individuals for a disease, are calculated as a weighted count of risk alleles identified in genome-wide association studies. PGS methods differ in which DNA variants are included and the weights assigned to them; some require an…
Childhood adversity patterns differentially cluster with mental disorders and socioeconomic indicators in a large Swiss community sample.
BACKGROUND: Exposure to childhood adversities (CHAD) has been found to be strongly associated with individuals' mental health and social development. Recently, it has been suggested that certain CHAD patterns exist in the population, which are more closely related to individuals' later mental health…
Transcriptome-based polygenic score links depression-related corticolimbic gene expression changes to sex-specific brain morphology and depression risk.
Studies in post-mortem human brain tissue have associated major depressive disorder (MDD) with cortical transcriptomic changes, whose potential in vivo impact remains unexplored. To address this translational gap, we recently developed a transcriptome-based polygenic risk score (T-PRS) based on…
Untargeted Metabolome- and Transcriptome-Wide Association Study Suggests Causal Genes Modulating Metabolite Concentrations in Urine.
Gene products can affect the concentrations of small molecules (aka "metabolites"), and conversely, some metabolites can modulate the concentrations of gene transcripts. While many specific instances of this interplay have been revealed, a global approach to systematically uncover human…
The Genetic Architecture of Depression in Individuals of East Asian Ancestry: A Genome-Wide Association Study.
Importance: Most previous genome-wide association studies (GWAS) of depression have used data from individuals of European descent. This limits the understanding of the underlying biology of depression and raises questions about the transferability of findings between populations. Objective: To…
Diurnal Salivary Cortisol in Sarcopenic Postmenopausal Women: The OsteoLaus Cohort.
Sarcopenia, similar to hypercortisolism, is characterized by loss of muscle mass and strength. Cortisol circadian rhythm changes with aging (blunted late-day nadir values) were suggested to contribute to this decline. We aimed to explore the relationship between diurnal salivary cortisol values and…
Retirement is associated with a decrease in dietary quality.
BACKGROUND AND AIM: Retirement has been associated with changes in dietary intake. We evaluated dietary intake and compliance to dietary guidelines after retirement in a population-based survey. METHODS: Data from a prospective study conducted in Lausanne, Switzerland. Dietary intake was assessed…
Age at Natural Menopause and Blood Pressure Traits: Mendelian Randomization Study.
Observational studies suggest that early onset of menopause is associated with increased risk of hypertension. Whether this association is causal or due to residual confounding and/or reverse causation remains undetermined. We aimed to evaluate the observational and causal association between age at…
Worldwide trends in hypertension prevalence and progress in treatment and control from 1990 to 2019: a pooled analysis of 1201 population-representative studies with 104 million participants.
BACKGROUND: Hypertension can be detected at the primary health-care level and low-cost treatments can effectively control hypertension. We aimed to measure the prevalence of hypertension and progress in its detection, treatment, and control from 1990 to 2019 for 200 countries and territories.…
Real-world gait speed estimation, frailty and handgrip strength: a cohort-based study.
Gait speed is a reliable outcome measure across multiple diagnoses, recognized as the 6th vital sign. The focus of the present study was on assessment of gait speed in long-term real-life settings with the aim to: (1) demonstrate feasibility in large cohort studies, using data recorded with a…
Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci.
Educational attainment is widely used as a surrogate for socioeconomic status (SES). Low SES is a risk factor for hypertension and high blood pressure (BP). To identify novel BP loci, we performed multi-ancestry meta-analyses accounting for gene-educational attainment interactions using two…
Human genomics of the humoral immune response against polyomaviruses.
Human polyomaviruses are widespread in humans and can cause severe disease in immunocompromised individuals. To identify human genetic determinants of the humoral immune response against polyomaviruses, we performed genome-wide association studies and meta-analyses of qualitative and quantitative…
Genetic insights into biological mechanisms governing human ovarian ageing.
Reproductive longevity is essential for fertility and influences healthy ageing in women(1,2), but insights into its underlying biological mechanisms and treatments to preserve it are limited. Here we identify 290 genetic determinants of ovarian ageing, assessed using normal variation in age at…
Examining sex differences in neurodevelopmental and psychiatric genetic risk in anxiety and depression.
Anxiety and depression are common mental health disorders and have a higher prevalence in females. They are modestly heritable, share genetic liability with other psychiatric disorders, and are highly heterogeneous. There is evidence that genetic liability to neurodevelopmental disorders, such as…
Impact of dietary and obesity genetic risk scores on weight gain.
BACKGROUND: Whether genetic background and/or dietary behaviors influence weight gain in middle-aged subjects is debated. OBJECTIVE: To assess whether genetic background and/or dietary behaviors are associated with changes in obesity markers (BMI, weight, and waist and hip circumferences) in a Swiss…
The trans-ancestral genomic architecture of glycemic traits.
Glycemic traits are used to diagnose and monitor type 2 diabetes and cardiometabolic health. To date, most genetic studies of glycemic traits have focused on individuals of European ancestry. Here we aggregated genome-wide association studies comprising up to 281,416 individuals without diabetes…
Impact of smoking on sleep macro- and microstructure.
OBJECTIVES: Existing data suggest that smoking may be associated with sleep disturbances. This study aimed to determine the association between smoking and both subjective and objective sleep quality. METHODS: Cross-sectional analysis of sleep characteristics in 3233 participants from the…
Does Cognitive Functioning Predict Chronic Pain in Older Adult? Results From the CoLaus|PsyCoLaus Longitudinal Study.
Chronic pain (CP) and cognitive impairment are common in older adults. CP was found to be associated with cognitive impairment in many cross-sectional studies. However, their cross-sectional design precluded inference on temporality. Accordingly, we aimed to prospectively assess the association…
Factors associated with subjective cognitive decline in dementia-free older adults-A population-based study.
BACKGROUND: Subjective cognitive decline (SCD) is common in older adults, affects quality of life (QoL), and may represent the earliest clinical manifestation of cognitive decline evolving to dementia. Still little is known about factors associated with SCD. OBJECTIVES: (1) Assess the associations…
No changes in dietary intake after quitting smoking; a prospective study in Switzerland.
BACKGROUND: After quitting smoking, quitters frequently increase their weight and change their dietary intake. Still, most studies on the topic are over 20 years old and focused on few dietary markers. We analysed the changes in weight and dietary intake after quitting smoking using a large panel of…
Do Weight trajectories influence diabetes control? A prospective study in Switzerland (CoLaus study).
Objective: Identify anthropometric trajectories among subjects with type 2 diabetes mellitus (T2DM), and associate them with glycaemic control. Methods: Prospective study including 268 community-dwelling participants with T2DM (34% women, mean age 68.7 +/- 8.9 years) followed for 10.7 years (range:…
Dietary Intake and Diet Quality of Adult Survivors of Childhood Cancer and the General Population: Results from the SCCSS-Nutrition Study.
Childhood cancer survivors (CCSs) are at increased risk of developing chronic health conditions. This may potentially be reduced by a balanced diet. We aimed to compare dietary intake and diet quality using the Alternative Healthy Eating Index (AHEI) of adult CCSs and the general Swiss population. A…
Genome-wide association study of circulating interleukin 6 levels identifies novel loci.
Interleukin 6 (IL-6) is a multifunctional cytokine with both pro- and anti-inflammatory properties with a heritability estimate of up to 61%. The circulating levels of IL-6 in blood have been associated with an increased risk of complex disease pathogenesis. We conducted a two-staged, discovery and…
Associations of Total Legume, Pulse, and Soy Consumption with Incident Type 2 Diabetes: Federated Meta-Analysis of 27 Studies from Diverse World Regions.
BACKGROUND: The consumption of legumes is promoted as part of a healthy diet in many countries but associations of total and types of legume consumption with type 2 diabetes (T2D) are not well established. Analyses across diverse populations are lacking despite the availability of unpublished legume…
Ten-Year Trend in Polypharmacy in the Lausanne Population.
BACKGROUND: Aging and associated morbidities place individuals at higher risk of polypharmacy and drug-drug interactions (DDIs). How polypharmacy and DDIs change with aging is important for public health management. OBJECTIVES: The aim of the study was to assess the 10-year trends in prevalence of…
Menopausal Transition Is Not Associated with Dietary Change in Swiss Women.
BACKGROUND: Adherence to a healthy diet could contribute to maintaining adequate health throughout the menopausal transition, but data are scarce. OBJECTIVE: We evaluated the association between menopausal status and changes in dietary intake in Swiss adult women. METHODS: Cross-sectional (n = 2439)…
Association between actigraphy-based sleep duration variability and cardiovascular risk factors - Results of a population-based study.
BACKGROUND: Although a few studies suggest an adverse effect of sleep duration variability on cardiovascular risk factor, others did not and this association remains controversial. Moreover, most studies were non-representative of the general population, used different sleep duration variability…
The association between genetically determined ABO blood types and major depressive disorder.
ABO blood types and their corresponding antigens have long been assumed to be related to different human diseases. So far, smaller studies on the relationship between mental disorders and blood types yielded contradicting results. In this study we analyzed the association between ABO blood types and…
Brain tissue properties link cardio-vascular risk factors, mood and cognitive performance in the CoLaus|PsyCoLaus epidemiological cohort.
Given the controversy about the impact of modifiable risk factors on mood and cognition in ageing, we sought to investigate the associations between cardio-vascular risk, mental health, cognitive performance and brain anatomy in mid- to old age. We analyzed a set of risk factors together with…
Polypill eligibility and equivalent intake in a Swiss population-based study.
The polypill has been advocated for cardiovascular disease (CVD) management. The fraction of the population who could benefit from the polypill in Switzerland is unknown. Assess (1) the prevalence of subjects (a) eligible for the polypill and (b) already taking a polypill equivalent; and (2) the…
Retrospectively assessed trajectories of PTSD symptoms and their subsequent comorbidities.
BACKGROUND: Dynamic trajectories of psychopathology, such as post-traumatic stress disorder (PTSD) provide a key to understanding human adjustment processes after trauma exposure. Recent studies have suggested more heterogeneous mental health outcomes than the initially identified four adjustment…
Dietary Patterns are Differentially Associated with Atypical and Melancholic Subtypes of Depression.
Diet has been associated with the risk of depression, whereas different subtypes of depression have been linked with different cardiovascular risk factors (CVRFs). In this study, our aims were to 1) identify dietary patterns with exploratory factor analysis, 2) assess cross-sectional associations…
Risk factors of excessive daytime sleepiness in a prospective population-based cohort.
Although excessive daytime sleepiness is commonly evaluated in clinical and research settings using the Epworth Sleepiness Scale, few studies have assessed the factors associated with its incidence in the general population. We prospectively investigated the predictors of incident and persistent…
Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders.
Multiplex families with a high prevalence of a psychiatric disorder are often examined to identify rare genetic variants with large effect sizes. In the present study, we analysed whether the risk for bipolar disorder (BD) in BD multiplex families is influenced by common genetic variants.…
Triangulating evidence from longitudinal and Mendelian randomization studies of metabolomic biomarkers for type 2 diabetes.
The number of people affected by Type 2 diabetes mellitus (T2DM) is close to half a billion and is on a sharp rise, representing a major and growing public health burden. Given its mild initial symptoms, T2DM is often diagnosed several years after its onset, leaving half of diabetic individuals…
Life-course socioeconomic disadvantage and lung function: a multicohort study of 70 496 individuals.
BACKGROUND: Lung function is an important predictor of health and a marker of physical functioning at older ages. This study aimed to quantify the years of lung function lost according to disadvantaged socioeconomic conditions across the life-course. METHODS: This multicohort study used harmonised…
Heterogeneous contributions of change in population distribution of body mass index to change in obesity and underweight.
From 1985 to 2016, the prevalence of underweight decreased, and that of obesity and severe obesity increased, in most regions, with significant variation in the magnitude of these changes across regions. We investigated how much change in mean body mass index (BMI) explains changes in the prevalence…
Clinical factors associated with the intraventricular conduction disturbances in Swiss middle-aged adults: The CoLaus|PsyCoLaus study.
BACKGROUND: Intraventricular conduction disturbances are associated with an increased risk of adverse cardiovascular outcomes. However, data about factors associated with intraventricular conduction disturbances are sparse. We aimed to identify the clinical factors associated with intraventricular…
Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability.
Differences between sexes contribute to variation in the levels of fasting glucose and insulin. Epidemiological studies established a higher prevalence of impaired fasting glucose in men and impaired glucose tolerance in women, however, the genetic component underlying this phenomenon is not…
Mapping grip force to motor networks.
AIM: There is ongoing debate about the role of cortical and subcortical brain areas in force modulation. In a whole-brain approach, we sought to investigate the anatomical basis of grip force whilst acknowledging interindividual differences in connectivity patterns. We tested if brain lesion mapping…
Obesity and atypical depression symptoms: findings from Mendelian randomization in two European cohorts.
Studies considering the causal role of body mass index (BMI) for the predisposition of major depressive disorder (MDD) based on a Mendelian Randomization (MR) approach have shown contradictory results. These inconsistent findings may be attributable to the heterogeneity of MDD; in fact, several…
Genetic comorbidity between major depression and cardio-metabolic traits, stratified by age at onset of major depression.
It is imperative to understand the specific and shared etiologies of major depression and cardio-metabolic disease, as both traits are frequently comorbid and each represents a major burden to society. This study examined whether there is a genetic association between major depression and…
Prospective association between adherence to the Mediterranean diet and hepatic steatosis: the Swiss CoLaus cohort study.
OBJECTIVE: The Mediterranean diet has been promoted as a healthy dietary pattern, but whether the Mediterranean diet may help to prevent hepatic steatosis is not clear. This study aimed to evaluate the prospective association between adherence to the Mediterranean diet and risk of hepatic steatosis.…
Clinical and biological determinants of P-wave duration: cross-sectional data from the population-based CoLaus|PsyCoLaus study.
OBJECTIVES: P-wave duration (PWD) is associated with the development of atrial arrhythmias, cardiovascular and all-cause mortality. With this study, we aimed to assess the distribution and determinants of PWD in the general population. DESIGN: Cross-sectional study using data collected between 2014…
Genome-wide association study identifies 48 common genetic variants associated with handedness.
Handedness has been extensively studied because of its relationship with language and the over-representation of left-handers in some neurodevelopmental disorders. Using data from the UK Biobank, 23andMe and the International Handedness Consortium, we conducted a genome-wide association…
Patterning of educational attainment across inflammatory markers: Findings from a multi-cohort study.
BACKGROUND: Evidence suggests that the inflammatory reaction, an adaptive response triggered by a variety of harmful stimuli and conditions involved in the risk and development of many chronic diseases, is a potential pathway through which the socioeconomic environment is biologically embedded.…
Prognostic and therapeutic considerations of antibodies against c-ter apolipoprotein A-1 in the general population.
Objectives: Autoantibodies against apolipoprotein A1 (anti-apoA1 IgGs) and its C-terminal region (cter apoA1) have emerged as an independent biomarker for cardiovascular disease. Cter apoA1 mimetic peptides were shown to reverse the deleterious anti-apoA1 IgG effects in vitro. We evaluated the…
Electroencephalographic changes associated with subjective under- and overestimation of sleep duration.
Feeling awake although sleep recordings indicate clear-cut sleep sometimes occurs in good sleepers and to an extreme degree in patients with so-called paradoxical insomnia. It is unknown what underlies sleep misperception, as standard polysomnographic (PSG) parameters are often normal in these…
The haemochromatosis gene Hfe and Kupffer cells control LDL cholesterol homeostasis and impact on atherosclerosis development.
AIMS: Imbalances of iron metabolism have been linked to the development of atherosclerosis. However, subjects with hereditary haemochromatosis have a lower prevalence of cardiovascular disease. The aim of our study was to understand the underlying mechanisms by combining data from genome-wide…
Longitudinal panel data study of self-rated health among migrants in French-speaking Switzerland, 2003-2017.
INTRODUCTION: Studies have documented poorer health among migrants than natives of several European countries, but little is known for Switzerland. We assessed the association between country of birth, socioeconomic factors and self-reported health (SRH) in a prospective cohort of adults living in…
Dietary patterns according to vitamin supplement use. A cross-sectional study in Switzerland.
Background: consumers of dietary supplements (DS) or vitamin-mineral supplements (VMS) have a better health profile than nonconsumers; whether this also applies to healthier dietary patterns has seldom been assessed. We aimed to assess the dietary intake of subjects according to their consumption of…
Pulse wave amplitude drops during sleep: clinical significance and characteristics in a general population sample.
STUDY OBJECTIVES: To explore the clinical significance of pulse wave amplitude (PWA)-drops during sleep as a biomarker for cardiometabolic disorders and describe their main characteristics in a general population sample. METHODS: Cross-sectional study of HypnoLaus cohort, in which 2162 individuals…
National trends in total cholesterol obscure heterogeneous changes in HDL and non-HDL cholesterol and total-to-HDL cholesterol ratio: a pooled analysis of 458 population-based studies in Asian and Western countries.
BACKGROUND: Although high-density lipoprotein (HDL) and non-HDL cholesterol have opposite associations with coronary heart disease, multi-country reports of lipid trends only use total cholesterol (TC). Our aim was to compare trends in total, HDL and non-HDL cholesterol and the total-to-HDL…
Salivary cortisol and five-year change in cognitive performance in non-demented elderly subjects: a population-based study.
Elevated cortisol levels have been associated with poorer cognitive performance in cross-sectional studies; this may be both a factor contributing to neurodegeneration and cognitive decline and a result of developing brain pathologies. However, it is still unclear (1) whether cortisol measures…
Clinical determinants of the PR interval duration in Swiss middle-aged adults: The CoLaus/PsyCoLaus study.
BACKGROUND: Prolonged PR interval (PRi) is associated with adverse outcomes. However, PRi determinants are poorly known. We aimed to identify the clinical determinants of the PRi duration in the general population. HYPOTHESIS: Some clinical data are associated with prolonged PRi. METHODS:…
Reducing socio-economic inequalities in all-cause mortality: a counterfactual mediation approach.
BACKGROUND: Socio-economic inequalities in mortality are well established, yet the contribution of intermediate risk factors that may underlie these relationships remains unclear. We evaluated the role of multiple modifiable intermediate risk factors underlying socio-economic-associated mortality…
Use of lipoprotein(a) for refining cardiovascular risk prediction in a low-risk population: The CoLaus/PsyCoLaus study.
Quantifying peripheral sympathetic activations during sleep by means of an automatic method for pulse wave amplitude drop detection.
Sudden drops in pulse wave amplitude (PWA) measured by finger photoplethysmography (PPG) are known to reflect peripheral vasoconstriction resulting from sympathetic activation. Previous work demonstrated that sympathetic activations during sleep typically accompany the occurrence of pathological…
The Genetics of the Mood Disorder Spectrum: Genome-wide Association Analyses of More Than 185,000 Cases and 439,000 Controls.
BACKGROUND: Mood disorders (including major depressive disorder and bipolar disorder) affect 10% to 20% of the population. They range from brief, mild episodes to severe, incapacitating conditions that markedly impact lives. Multiple approaches have shown considerable sharing of risk factors across…
Genome-wide gene-environment analyses of major depressive disorder and reported lifetime traumatic experiences in UK Biobank.
Depression is more frequent among individuals exposed to traumatic events. Both trauma exposure and depression are heritable. However, the relationship between these traits, including the role of genetic risk factors, is complex and poorly understood. When modelling trauma exposure as an…
Minimal phenotyping yields genome-wide association signals of low specificity for major depression.
Minimal phenotyping refers to the reliance on the use of a small number of self-reported items for disease case identification, increasingly used in genome-wide association studies (GWAS). Here we report differences in genetic architecture between depression defined by minimal phenotyping and…
The contribution of sleep to social inequalities in cardiovascular disorders: a multi-cohort study.
AIMS: Sleep disturbances exhibit a strong social patterning, and inadequate sleep has been associated with adverse health outcomes, including cardiovascular disorders (CVD). However, the contribution of sleep to socioeconomic inequalities in CVD is unclear. This study pools data from eight European…
SPHN - The Swiss Aging Citizen Reference (SACR).
In Switzerland by 2045, we expect 2.7 Mio citizens aged 65+ of whom 1.0 Mio. aged 80+. A priority and focus of personalized health research is therefore aging biology to extend healthy life expectancy. Novel molecular and imaging features will emerge as candidate targets for risk prediction and…
Converging patterns of aging-associated brain volume loss and tissue microstructure differences.
Given the worldwide increasing socioeconomic burden of aging-associated brain diseases, there is pressing need to gain in-depth knowledge about the neurobiology of brain anatomy changes across the life span. Advances in quantitative magnetic resonance imaging sensitive to brain's myelin, iron, and…
Repositioning of the global epicentre of non-optimal cholesterol.
High blood cholesterol is typically considered a feature of wealthy western countries(1,2). However, dietary and behavioural determinants of blood cholesterol are changing rapidly throughout the world(3) and countries are using lipid-lowering medications at varying rates. These changes can have…
Mean Oxygen Saturation during Sleep Is Related to Specific Brain Atrophy Pattern.
OBJECTIVE: There is much controversy about the neurobiological mechanisms underlying the effects of sleep-disordered breathing on the brain. The aim of this study was to investigate the association between markers of sleep-related hypoxemia and brain anatomy. METHODS: We used data from a large-scale…
A phenome-wide association and Mendelian Randomisation study of polygenic risk for depression in UK Biobank.
Depression is a leading cause of worldwide disability but there remains considerable uncertainty regarding its neural and behavioural associations. Here, using non-overlapping Psychiatric Genomics Consortium (PGC) datasets as a reference, we estimate polygenic risk scores for depression…
Generalized Anxiety Disorder is Prospectively Associated With Decreased Levels of Interleukin-6 and Adiponectin Among Individuals from the Community.
BACKGROUND: Anxiety disorders have been related to cardiovascular diseases via low-grade inflammation, but longitudinal studies on the association between generalized anxiety disorder (GAD) and inflammatory biomarkers are sparse. Furthermore, no studies have examined the association between GAD and…
Determinants of Metabolic Health Across Body Mass Index Categories in Central Europe: A Comparison Between Swiss and Czech Populations.
Comparisons among countries can help to identify opportunities for the reduction of inequalities in cardiometabolic health. The present cross-sectional analysis and meta-analysis aim to address to what extent obesity traits, socioeconomic, and behavioral factors determine poor metabolic health…
Postmenopausal women with osteoporosis consume high amounts of vegetables but insufficient dairy products and calcium to benefit from their virtues: the CoLaus/OsteoLaus cohort.
We evaluated the associations between nutrients, dietary patterns or compliance to dietary guidelines and bone health among postmenopausal women from the CoLaus/OsteoLaus cohort. Postmenopausal women with osteoporosis consume a high amount of vegetables but insufficient amount of dairy products and…
Major depression subtypes are differentially associated with migraine subtype, prevalence and severity.
OBJECTIVE: Migraine and major depressive disorder show a high rate of comorbidity, but little is known about the associations between the subtypes of major depressive disorder and migraine. In this cross-sectional study we aimed at investigating a) the lifetime associations between the atypical,…
Evaluation of Cardiometabolic Risk in a Large Psychiatric Cohort and Comparison With a Population-Based Sample in Switzerland.
BACKGROUND: Psychiatric patients are known to be at high risk of developing cardiovascular diseases (CVDs), leading to an increased mortality rate. OBJECTIVE: To assess the CVD risk (presence of metabolic syndrome [MetS] and calculated 10-year CVD risk) in a Swiss psychiatric cohort taking weight…
Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders.
Genetic influences on psychiatric disorders transcend diagnostic boundaries, suggesting substantial pleiotropy of contributing loci. However, the nature and mechanisms of these pleiotropic effects remain unclear. We performed analyses of 232,964 cases and 494,162 controls from genome-wide studies of…
"Inflammaging" and bone in the OsteoLaus cohort.
Background: "Inflammaging" is a coined term that combines the processes of inflammation (within the normal range) and aging, since chronic, low-grade, systemic inflammation emerges with increasing age. Unlike high-level inflammation, with which deleterious effects on bone no longer need to be…
Maternal educational inequalities in measured body mass index trajectories in three European countries.
BACKGROUND: Social inequalities in the prevalence of childhood overweight and obesity are well-established, but less is known about when the social gradient first emerges and how it evolves across childhood and adolescence. OBJECTIVE: This study examines maternal education differentials in…
Classical Human Leukocyte Antigen Alleles and C4 Haplotypes Are Not Significantly Associated With Depression.
BACKGROUND: The prevalence of depression is higher in individuals with autoimmune diseases, but the mechanisms underlying the observed comorbidities are unknown. Shared genetic etiology is a plausible explanation for the overlap, and in this study we tested whether genetic variation in the major…
Integrated analysis of environmental and genetic influences on cord blood DNA methylation in new-borns.
Epigenetic processes, including DNA methylation (DNAm), are among the mechanisms allowing integration of genetic and environmental factors to shape cellular function. While many studies have investigated either environmental or genetic contributions to DNAm, few have assessed their integrated…
Salivary cortisol is not associated with incident insulin resistance or type 2 diabetes mellitus.
Background: Excessive glucocorticoid secretion has been associated with type 2 diabetes mellitus (T2DM) and other features of the metabolic syndrome. We aimed to evaluate whether basal or evening salivary cortisol may predict the occurrence of incident insulin resistance (IR) or T2DM. Method: This…
Subtypes of alcohol use disorder in the general population: A latent class analysis.
Alcohol use disorders (AUD) are often comorbid with other disorders with high levels of impairment, which is of relevance for the development and the progression of the disease. Evidence shows that AUD varies greatly with regard to its aetiology, which might lead to distinct clinical representations…
FADS3 is a Delta14Z sphingoid base desaturase that contributes to gender differences in the human plasma sphingolipidome.
Sphingolipids (SLs) are structurally diverse lipids that are defined by the presence of a long-chain base (LCB) backbone. Typically, LCBs contain a single Delta4E double bond (DB) (mostly d18:1), whereas the dienic LCB sphingadienine (d18:2) contains a second DB at the Delta14Z position. The enzyme…
Validation of Seven Type 2 Diabetes Mellitus Risk Scores in a Population-Based Cohort: The CoLaus Study.
AIM: To assess the validity of seven type 2 diabetes mellitus (T2DM) risk scores in predicting the 10-year incidence of T2DM in a Swiss population-based study. METHODS: The prospective study included 5131 participants (55% women, age range 35 to 75 years) living in Lausanne, Switzerland. The…
A pharmacogenetic risk score for the evaluation of major depression severity under treatment with antidepressants.
The severity of symptoms as well as efficacy of antidepressants in major depressive disorder (MDD) is modified by single nucleotide polymorphisms (SNPs) in different genes, which may contribute in an additive or synergistic fashion. We aimed to investigate depression severity in participants with…
Comparison of Swiss and European risk algorithms for cardiovascular prevention in Switzerland.
BACKGROUND: In Switzerland, two distinct algorithms are recommended for cardiovascular prevention: (a) Arbeitsgruppe Lipide und Atherosklerose (AGLA); and (b) European Society of Cardiology (ESC). We validated and determined which algorithm better predicts incident atherosclerotic cardiovascular…
Epidemiology of at-risk alcohol use and associated comorbidities of interest among community-dwelling older adults: a protocol for a systematic review.
INTRODUCTION: There is little epidemiological evidence and knowledge about at-risk alcohol use among community-dwelling older adults and their chronic and acute alcohol-related comorbidities of interest. This systematic review will summarise and examine relevant studies about the epidemiology of…
[GeoLaus, a Study on the Influence of Geo-Environmental Characteristics on Population Health]
GeoLaus, a Study on the Influence of Geo-Environmental Characteristics on Population Health Abstract. Geographic information on risk factors for health or disease is increasingly being used to understand the determinants of health. GeoLaus is a project initiated in 2015 that studies the impact of…
[OsteoLaus: Right to Exist and First Results]
OsteoLaus: Right to Exist and First Results Abstract. The OsteoLaus cohort included 1475 women aged 50 to 80 years between 2010 and 2012, and since followed every 2.5 years. The main goal is to better define osteoporosis and the prediction of fracture risk. Using the multiple data available in…
[CoLaus: Diet, the Forgotten Key to Preventing Cardiovascular Diseases]
CoLaus: Diet, the Forgotten Key to Preventing Cardiovascular Diseases Abstract. Healthy eating is paramount for the prevention and management of cardiovascular diseases. Still, data from the CoLaus study show that dietary management of cardiovascular risk factors and cardiovascular disease is little…
[PsyCoLaus: A Prospective Study of the Links between Mental Health and Cardiovascular Diseases]
PsyCoLaus: A Prospective Study of the Links between Mental Health and Cardiovascular Diseases Abstract. PsyCoLaus, which includes an investigation of mental disorders and cognitive functioning, aims to determine the prevalence and the course of mental disorders in the general population and to study…
[PneumoLaus: Prevalence of Lung Function Abnormalities in a Sample of the General Population of Lausanne]
PneumoLaus: Prevalence of Lung Function Abnormalities in a Sample of the General Population of Lausanne Abstract. Reduced lung function predicts increased mortality. The prevalence of spirometric abnormalities depends on their definition, the references values used and the use or not of…
[Socio-Economic Differences in the Lausanne CoLaus Cohort]
Socio-Economic Differences in the Lausanne CoLaus Cohort Abstract. The CoLaus study allowed to highlight the existence of broad social inequalities in health among the population of the city of Lausanne. In fact, participants with low socioeconomic status had a higher prevalence of cardio-metabolic…
Score NoSAS: un outil de dépistage du syndrome d’apnées du sommeil pour le médecin de premier recours.
Associations of Personality Traits With Chronic Low-Grade Inflammation in a Swiss Community Sample.
Objective: Among the major dimensions of personality, high Neuroticism and low Conscientiousness have frequently been linked to worse health-related behaviors and poor health outcomes. However, studies on the association between personality traits and biomarkers of chronic low-grade inflammation…
Clinical Performance of the Updated Trabecular Bone Score (TBS) Algorithm, Which Accounts for the Soft Tissue Thickness: The OsteoLaus Study.
Regional soft tissue may have a noise effect on trabecular bone score (TBS) and eventually alter its estimate. The current TBS software (TBS iNsight(R)) is based on an algorithm accounting for body mass index (BMI) (TBSv3.03 ). We aimed to explore the updated TBS algorithm that accounts for soft…
Ten-year trend in sleeping pills use in Switzerland: the CoLaus study.
OBJECTIVE: The aim of this study was to assess the trends and determinants of sleeping pill consumption in the general population. METHODS: This was a prospective study that included 4329 participants (2379 women, 51.9 +/- 10.4 years) living in the city of Lausanne, Switzerland, followed up for an…
[The CoLaus/PsyCoLaus study : 16 years of follow-up with some key messages end images].
The main aims of the CoLaus/PsyCoLaus cohort study are to better understand: 1) the personal, biologic, genetic end environmental determinants of cardiovascular risk factors and diseases, and 2) the existing association of mental disorders with cardiovascular diseases. The study was initiated in…
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.
Elevated serum urate levels cause gout and correlate with cardiometabolic diseases via poorly understood mechanisms. We performed a trans-ancestry genome-wide association study of serum urate in 457,690 individuals, identifying 183 loci (147 previously unknown) that improve the prediction of gout in…
Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration.
Both short and long sleep are associated with an adverse lipid profile, likely through different biological pathways. To elucidate the biology of sleep-associated adverse lipid profile, we conduct multi-ancestry genome-wide sleep-SNP interaction analyses on three lipid traits (HDL-c, LDL-c and…
Association of napping with incident cardiovascular events in a prospective cohort study.
OBJECTIVE: There is controversy regarding the effect of napping on cardiovascular disease (CVD), with most studies failing to consider napping frequency. We aimed to assess the relationship of napping frequency and average nap duration with fatal and non-fatal CVD events. METHODS: 3462 subjects of a…
Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9.
BACKGROUND: We characterised the phenotypic consequence of genetic variation at the PCSK9 locus and compared findings with recent trials of pharmacological inhibitors of PCSK9. METHODS: Published and individual participant level data (300,000+ participants) were combined to construct a weighted…
Associations of autozygosity with a broad range of human phenotypes.
In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with…
Development and multi-cohort validation of a clinical score for predicting type 2 diabetes mellitus.
BACKGROUND AND AIMS: Many countries lack resources to identify patients at risk of developing Type 2 diabetes mellitus (diabetes). We aimed to develop and validate a diabetes risk score based on easily accessible clinical data. METHODS: Prospective study including 5277 participants (55.0% women,…
Mental disorders, attrition at follow-up, and questionnaire non-completion in epidemiologic research. Illustrations from the CoLaus|PsyCoLaus study.
OBJECTIVE: This study aimed to investigate the associations between mental disorders recorded at baseline and participation in the subsequent follow-up interview (vs. attrition) or baseline questionnaire completion (vs. non-response) within the psychiatric arm of a population-based study. METHODS:…
Comparison of the Physical Activity Frequency Questionnaire (PAFQ) with accelerometry in a middle-aged and elderly population: The CoLaus study.
OBJECTIVE: The Physical Activity Frequency Questionnaire (PAFQ) has been used in several studies, but its validation dates from 1998. We compared the PAFQ with accelerometry data for measuring levels of physical activity (PA) in a middle-aged and elderly population. DESIGN: Cross-sectional analysis…
Cardiovascular health and sleep disturbances in two population-based cohort studies.
OBJECTIVE: We aimed to investigate the association between cardiovascular health (CVH), as defined by the American Heart Association, and several sleep disturbances. METHODS: Two community-based cohorts, the Paris Prospective Study 3 (PPS3, France, n=6441) and the CoLaus study (Switzerland, n=2989)…
Does sleep predict next-day napping or does napping influence same-day nocturnal sleep? Results of a population-based ecological momentary assessment study.
STUDY OBJECTIVES: The temporal relationship between nocturnal sleep and daytime napping has only been assessed in small non-representative samples, and suggests that nocturnal sleep and napping are interdependent, although mixed results exist. In this study, we investigated the temporal relationship…
Prevalence and factors associated with fatigue in the Lausanne middle-aged population: a population-based, cross-sectional survey.
OBJECTIVE: To assess the prevalence and factors associated with fatigue in the general population. DESIGN: Population-based, cross-sectional survey performed between May 2014 and April 2017. SETTING: General population of the city of Lausanne, Switzerland. PARTICIPANTS: 2848 participants (53.2%…
The Metabolic Benefits of Menopausal Hormone Therapy Are Not Mediated by Improved Nutritional Habits. The OsteoLaus Cohort.
Menopause alters body composition by increasing fat mass. Menopausal hormone therapy (MHT) is associated with decreased total and visceral adiposity. It is unclear whether MHT favorably affects energy intake. We aimed to assess in the OsteoLaus cohort whether total energy intake (TEI) and/or diet…
Differences between unipolar mania and bipolar-I disorder: Evidence from nine epidemiological studies.
OBJECTIVES: Although clinical evidence suggests important differences between unipolar mania and bipolar-I disorder (BP-I), epidemiological data are limited. Combining data from nine population-based studies, we compared subjects with mania (M) or mania with mild depression (Md) to those with BP-I…
GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores.
OBJECTIVE: More than 90% of people who attempt suicide have a psychiatric diagnosis; however, twin and family studies suggest that the genetic etiology of suicide attempt is partially distinct from that of the psychiatric disorders themselves. The authors present the largest genome-wide association…
Estimated 24-h urinary sodium and sodium-to-potassium ratio are predictors of kidney function decline in a population-based study.
BACKGROUND: The prevalence of chronic kidney disease (CKD) is increasing worldwide in part due to population ageing. Identifying risk factors for age-related kidney function decline could help in understanding mechanisms for kidney ageing. Sodium and potassium intakes are associated with CKD…
Allostatic load and subsequent all-cause mortality: which biological markers drive the relationship? Findings from a UK birth cohort.
The concept of allostatic load (AL) refers to the idea of a global physiological 'wear and tear' resulting from the adaptation to the environment through the stress response systems over the life span. The link between socioeconomic position (SEP) and mortality has now been established, and there is…
Familial Aggregation and Coaggregation of Suicide Attempts and Comorbid Mental Disorders in Adults.
Importance: Clarification of the joint influence of familial patterns of suicide attempts and comorbid mental disorders can enhance the understanding and prevention of suicide attempts. Objective: To investigate the familial patterns of suicide attempts and comorbid mental disorders and their…
Genome-wide Association Study of Change in Fasting Glucose over time in 13,807 non-diabetic European Ancestry Individuals.
Type 2 diabetes (T2D) affects the health of millions of people worldwide. The identification of genetic determinants associated with changes in glycemia over time might illuminate biological features that precede the development of T2D. Here we conducted a genome-wide association study of…
Sex differences in neurodevelopmental and common mental disorders examined from three epidemiological perspectives.
Sex differences in neurodevelopmental and common mental disorders are a ubiquitous, well-known, though poorly understood phenomenon. This study examined the issue from three epidemiological perspectives: congruence in age of onset, distribution of sex-ratios with respect to age of onset and…
Effects of short- and long-term exposures to particulate matter on inflammatory marker levels in the general population.
The effect of particulate matter (PM) on health increases with exposure duration but the change from short to longer term is not well studied. We examined the exposure to PM smaller 10 mum (PM10) from short to longer duration and their associations with levels of inflammatory markers in the…
A catalog of genetic loci associated with kidney function from analyses of a million individuals.
Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through trans-ancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated…
Neighbourhood socioeconomic deprivation and allostatic load: a multi-cohort study.
Living in deprived neighbourhoods may have biological consequences, but few studies have assessed this empirically. We examined the association between neighbourhood deprivation and allostatic load, a biological marker of wear and tear, taking into account individual's socioeconomic position. We…
Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.
Birth weight variation is influenced by fetal and maternal genetic and non-genetic factors, and has been reproducibly associated with future cardio-metabolic health outcomes. In expanded genome-wide association analyses of own birth weight (n = 321,223) and offspring birth weight (n = 230,069…
Does sleep affect weight gain? Assessing subjective sleep and polysomnography measures in a population-based cohort study (CoLaus/HypnoLaus).
STUDY OBJECTIVES: Although several studies have linked short and long sleep duration to weight gain, mixed results exist. Contrarily, few studies associated objectively measured sleep characteristics with weight gain. We investigated the association between several sleep characteristics measured by…
Contributions of mean and shape of blood pressure distribution to worldwide trends and variations in raised blood pressure: a pooled analysis of 1018 population-based measurement studies with 88.6 million participants.
Background: Change in the prevalence of raised blood pressure could be due to both shifts in the entire distribution of blood pressure (representing the combined effects of public health interventions and secular trends) and changes in its high-blood-pressure tail (representing successful clinical…
Genome-wide Burden of Rare Short Deletions Is Enriched in Major Depressive Disorder in Four Cohorts.
BACKGROUND: Major depressive disorder (MDD) is moderately heritable, with a high prevalence and a presumed high heterogeneity. Copy number variants (CNVs) could contribute to the heritable component of risk, but the two previous genome-wide association studies of rare CNVs did not report significant…
Rising rural body-mass index is the main driver of the global obesity epidemic in adults.
Body-mass index (BMI) has increased steadily in most countries in parallel with a rise in the proportion of the population who live in cities(1,2). This has led to a widely reported view that urbanization is one of the most important drivers of the global rise in obesity(3-6). Here we use 2,009…
Association of body temperature with obesity. The CoLaus study.
BACKGROUND AND AIMS: There is conflicting evidence regarding the association between body temperature and obesity. We aimed to assess the associations between body temperature and several adiposity and metabolic markers according to gender and menopausal status in a large population-based sample.…
[Menopausal hormone therapy. Effects on bone and body composition].
Changes occurring at menopause can be mitigated by prescribing menopausal hormone replacement therapy (HRT). Recent publications from the CoLaus/OsteoLaus cohorts provide important insights into the effects of HRT and after its discontinuation on bone and body composition. HRT has a beneficial…
A step beyond the hygiene hypothesis-immune-mediated classes determined in a population-based study.
BACKGROUND: Comorbidity patterns of childhood infections, atopic diseases, and adverse childhood experiences (ACE) are related to immune system programming conditions. The aim of this study was to make a step beyond the hygiene hypothesis and to comprehensively classify these patterns with latent…
Evolution of white matter tract microstructure across the life span.
The human brain undergoes dramatic structural change over the life span. In a large imaging cohort of 801 individuals aged 7-84 years, we applied quantitative relaxometry and diffusion microstructure imaging in combination with diffusion tractography to investigate tissue property dynamics across…
No association between vitamin C and E supplementation and grip strength over 5 years: the Colaus study.
PURPOSE: To assess the cross-sectional and longitudinal association between self-reported vitamin C + E dietary supplementation and markers of grip strength and frailty in community-dwelling Swiss adults. METHODS: Population-based study including 3277 participants (1722 women) aged 40-80 years at…
How Are Sleep Characteristics Related to Cardiovascular Health? Results From the Population-Based HypnoLaus study.
Background Although sleep characteristics have been linked to cardiovascular disease and cardiovascular risk factors, the association between sleep characteristics measured by polysomnography and cardiovascular health ( CVH ) remains unknown. Methods and Results In a population-based sample…
Multi-cohort study identifies social determinants of systemic inflammation over the life course.
Chronic inflammation has been proposed as having a prominent role in the construction of social inequalities in health. Disentangling the effects of early life and adulthood social disadvantage on inflammation is key in elucidating biological mechanisms underlying socioeconomic disparities. Here we…
Incidence of type 2 diabetes, hypertension, and dyslipidemia in metabolically healthy obese and non-obese.
BACKGROUND AND AIMS: Metabolically healthy obese (MHO) individuals are devoid of many metabolic abnormalities, but how this condition is maintained over time remains debated. We assessed the prevalence of MHO over time and the incidence of hypertension (HTN), dyslipidemia, and type 2 diabetes…
Disentangling the genetics of lean mass.
Background: Lean body mass (LM) plays an important role in mobility and metabolic function. We previously identified five loci associated with LM adjusted for fat mass in kilograms. Such an adjustment may reduce the power to identify genetic signals having an association with both lean mass and fat…
Dysregulation of a long noncoding RNA reduces leptin leading to a leptin-responsive form of obesity.
Quantitative changes in leptin concentration lead to alterations in food intake and body weight, but the regulatory mechanisms that control leptin gene expression are poorly understood. Here we report that fat-specific and quantitative leptin expression is controlled by redundant cis elements and…
Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.
Humans vary substantially in their willingness to take risks. In a combined sample of over 1 million individuals, we conducted genome-wide association studies (GWAS) of general risk tolerance, adventurousness, and risky behaviors in the driving, drinking, smoking, and sexual domains. Across all…
Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.
C-reactive protein (CRP) is a sensitive biomarker of chronic low-grade inflammation and is associated with multiple complex diseases. The genetic determinants of chronic inflammation remain largely unknown, and the causal role of CRP in several clinical outcomes is debated. We performed two…
The association between adherence to the Mediterranean diet and hepatic steatosis: cross-sectional analysis of two independent studies, the UK Fenland Study and the Swiss CoLaus Study.
BACKGROUND AND AIMS: The risk of hepatic steatosis may be reduced through changes to dietary intakes, but evidence is sparse, especially for dietary patterns including the Mediterranean diet. We investigated the association between adherence to the Mediterranean diet and prevalence of hepatic…
Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.
Many genetic loci affect circulating lipid levels, but it remains unknown whether lifestyle factors, such as physical activity, modify these genetic effects. To identify lipid loci interacting with physical activity, we performed genome-wide analyses of circulating HDL cholesterol, LDL cholesterol,…
Identification of common genetic risk variants for autism spectrum disorder.
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With…
Effect of Three Hypopnea Scoring Criteria on OSA Prevalence and Associated Comorbidities in the General Population.
STUDY OBJECTIVES: Apnea-hypopnea index (AHI) is the main polysomnographic measure to diagnose obstructive sleep apnea (OSA). We aimed to evaluate the effect of three standard hypopnea definitions on the prevalence of OSA and its association with cardiometabolic outcomes in the general population.…
Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.
Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 228,985 predicted coding and splice site variants available on exome arrays in up to 344,369…
Association of Whole-Genome and NETRIN1 Signaling Pathway-Derived Polygenic Risk Scores for Major Depressive Disorder and White Matter Microstructure in the UK Biobank.
BACKGROUND: Major depressive disorder is a clinically heterogeneous psychiatric disorder with a polygenic architecture. Genome-wide association studies have identified a number of risk-associated variants across the genome and have reported growing evidence of NETRIN1 pathway involvement.…
Does Childhood Trauma Moderate Polygenic Risk for Depression? A Meta-analysis of 5765 Subjects From the Psychiatric Genomics Consortium.
BACKGROUND: The heterogeneity of genetic effects on major depressive disorder (MDD) may be partly attributable to moderation of genetic effects by environment, such as exposure to childhood trauma (CT). Indeed, previous findings in two independent cohorts showed evidence for interaction between…
Ten-year incidence of hypertension in a Swiss population-based sample Incidence of hypertension in Switzerland.
Few studies assessed incidence and determinants of hypertension. We assessed the incidence and determinants of hypertension in a cohort of healthy adults aged 35-75 years living in Lausanne, Switzerland. Baseline data were collected from 2003 to 2006. Follow-ups were conducted in 2009-2012 and…
Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood.
Understanding the difference in genetic regulation of gene expression between brain and blood is important for discovering genes for brain-related traits and disorders. Here, we estimate the correlation of genetic effects at the top-associated cis-expression or -DNA methylation (DNAm) quantitative…
Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder.
Psychiatric disorders are thought to have a complex genetic pathology consisting of interplay of common and rare variation. Traditionally, pedigrees are used to shed light on the latter only, while here we discuss the application of polygenic risk scores to also highlight patterns of common genetic…
Association between dietary intake and inflammatory markers: results from the CoLaus study.
OBJECTIVE: To assess the associations between single foods, nutrients, dietary patterns and dietary scores, and inflammatory markers (C-reactive protein (CRP), IL-6, TNF-alpha and leucocyte count). DESIGN: Cross-sectional, population-based study. SETTING: City of Lausanne, Switzerland, years…
Lessons learned? Changes in dietary behavior after a coronary event.
BACKGROUND AND AIMS: A healthy diet is recommended for the prevention of coronary artery disease (CAD), but whereas patients with CAD adhere to a healthy diet is unclear. We aimed to assess the impact of a CAD event on dietary intake. METHODS: Prospective, population-based, observational study…
GLI 2012 equations define few spirometric anomalies in the general population: the PneumoLaus study.
BACKGROUND: Reduced lung function predicts increased mortality, but its prevalence may vary depending on definition considered, use of bronchodilation and applied reference values. We aimed to assess lung function abnormalities in Lausanne, Switzerland, and their association with clinical history.…
Genetic immune and inflammatory markers associated with diabetes in solid organ transplant recipients.
New-onset diabetes mellitus after transplantation (NODAT) is a complication following solid organ transplantation (SOT) and may be related to immune or inflammatory responses. We investigated whether single nucleotide polymorphisms (SNPs) within 158 immune- or inflammation-related genes contribute…
Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.
Type 2 diabetes (T2D) is a very common disease in humans. Here we conduct a meta-analysis of genome-wide association studies (GWAS) with ~16 million genetic variants in 62,892 T2D cases and 596,424 controls of European ancestry. We identify 139 common and 4 rare variants associated with T2D, 42 of…
Negative effect of vitamin D on kidney function: a Mendelian randomization study.
Background: The kidney plays a central role in the regulation of vitamin D metabolism. It is not clear, however, whether vitamin D influences kidney function. Previous studies have reported conflicting results, which may have been influenced by reverse causation and residual confounding. We…
A Powerful Test for SNP Effects on Multivariate Binary Outcomes using Kernel Machine Regression.
Evaluating multiple binary outcomes is common in genetic studies of complex diseases. These outcomes are often correlated because they are collected from the same individual and they may share common marker effects. In this paper, we propose a procedure to test for effect of a SNP-set on multiple,…
[Precision medicine : a required approach for the general internist].
The general internist cannot be a passive bystander of the anticipated medical revolution induced by precision medicine. This latter aims to improve the predictive and/or clinical course of an individual by integrating all biological, genetic, environmental, phenotypic and psychosocial knowledge of…
Social inequalities in sleep-disordered breathing: Evidence from the CoLaus|HypnoLaus study.
Sleep-disordered breathing is a common condition, related to a higher cardiometabolic and neurocognitive risk. The main risk factors for sleep-disordered breathing include obesity, craniofacial characteristics, male sex and age. However, some studies have suggested that adverse socioeconomic…
Obstructive sleep apnoea as a risk factor for incident metabolic syndrome: a joined Episono and HypnoLaus prospective cohorts study.
Cross-sectional studies have demonstrated that obstructive sleep apnoea (OSA) and metabolic syndrome (MetS) are often associated, but whether a temporal relationship exists is unknown. We aimed to investigate the effect of OSA on the risk of developing MetS in the general population.A prospective…
No association between dietary markers and incident hypertension in a population-based sample.
BACKGROUND/AIM: Many trials have shown that dietary interventions reduce the incidence of hypertension. Whether these findings also apply in the general population is debated. We assessed the association between dietary markers and incidence of hypertension. DESIGN: prospective observational study.…
Response to Letter to the Editor: "Menopausal Hormone Therapy Is Associated With Reduced and Total Visceral Adiposity: The OsteoLaus Cohort".
Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels.
Elevated serum urate levels can cause gout, an excruciating disease with suboptimal treatment. Previous GWAS identified common variants with modest effects on serum urate. Here we report large-scale whole-exome sequencing association studies of serum urate and kidney function among </=19,517…
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.
High blood pressure is a highly heritable and modifiable risk factor for cardiovascular disease. We report the largest genetic association study of blood pressure traits (systolic, diastolic and pulse pressure) to date in over 1 million people of European ancestry. We identify 535 novel blood…
Prevalence and Clinical Significance of Respiratory Effort-Related Arousals in the General Population.
STUDY OBJECTIVES: To determine the prevalence and clinical associations of respiratory effort-related arousals (RERA) in a general population sample. METHODS: A total of 2,162 participants (51.2% women, 58.5 +/- 11.0 years old, body mass index [BMI] 25.6 +/- 4.2 kg/m(2)) of a general…
Psychosocial Stress Over the Lifespan, Psychological Factors, and Cardiometabolic Risk in the Community.
OBJECTIVE: The complex relationship between psychosocial stress over the lifetime, psychological factors, and cardiometabolic risk is still poorly understood. Accordingly, our aims were (1) to independently assess the associations between childhood adversity, life-event stress in remote (earlier…
Polypharmacy, defined as taking five or more drugs, is inadequate in the cardiovascular setting.
BACKGROUND: By how much polypharmacy (defined by number of drugs) differs from polyactive ingredient use (defined by the number of pharmacologically active ingredients) has not been assessed. OBJECTIVES: To compare the extent of polypharmacy vs. polyactive ingredients among patients taking…
REM-associated sleep apnoea: prevalence and clinical significance in the HypnoLaus cohort.
This study determined the prevalence of rapid eye movement (REM) related sleep-disordered breathing (REM-SDB) in the general population and investigated the associations of REM-SDB with hypertension, metabolic syndrome, diabetes and depression.Home polysomnography (PSG) recordings (n=2074) from the…
Impact of sex and menopausal status on the prevalence, clinical presentation, and comorbidities of sleep-disordered breathing.
OBJECTIVE: Sleep-disordered breathing (SDB) is currently considered as a unique condition, but it has been suggested that the prevalence, clinical presentation, and associated conditions may differ by sex or by menopausal status in women. We aimed to assess the prevalence of SDB and associated…
Subtypes of stuttering determined by latent class analysis in two Swiss epidemiological surveys.
AIMS: Associations between stuttering in childhood and a broad spectrum of risk factors, associated factors and comorbidities were examined in two large epidemiological studies. Subtypes of stuttering were then identified based on latent class analysis (LCA). METHODS: Data were from two…
Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
Here we conducted a large-scale genetic association analysis of educational attainment in a sample of approximately 1.1 million individuals and identify 1,271 independent genome-wide-significant SNPs. For the SNPs taken together, we found evidence of heterogeneous effects across environments. The…
Seasonality of nutrient intake - An analysis including over 44,000 participants in 4 countries.
BACKGROUND AND AIMS: Dietary intake is believed to follow a seasonal pattern, so adjusting for seasonality in nutritional epidemiology is usually requested. The aim of this study was to assess the seasonality of energy and macronutrients intake (expressed as % of total caloric intake) using a large…
Physical activity is associated with higher sleep efficiency in the general population: the CoLaus study.
Study Objectives: To evaluate the association of objective physical activity (PA) and sedentary behavior (SB) with sleep duration and quality. Methods: Cross-sectional study including 2649 adults (53.5% women, 45-86 years) from the general population. Proportions of time spent in PA and SB were…
Association of activity behaviours and patterns with cardiovascular risk factors in Swiss middle-aged adults: The CoLaus study.
The impact of the combination between physical activity (PA) and sedentary (SE) levels on cardiovascular health is poorly known. We assessed the association of activity behaviours and patterns with cardiovascular risk factors in the general population (The CoLaus study, Switzerland, 2014-2017). 2605…
Spatial clusters of daytime sleepiness and association with nighttime noise levels in a Swiss general population (GeoHypnoLaus).
INTRODUCTION: Daytime sleepiness is highly prevalent in the general adult population and has been linked to an increased risk of workplace and vehicle accidents, lower professional performance and poorer health. Despite the established relationship between noise and daytime sleepiness, little…
Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea-related Quantitative Trait Locus in Men.
Obstructive sleep apnea (OSA) is a common heritable disorder displaying marked sexual dimorphism in disease prevalence and progression. Previous genetic association studies have identified a few genetic loci associated with OSA and related quantitative traits, but they have only focused on single…
A 10-year observational study on the trends and determinants of smoking status.
INTRODUCTION: Most studies on motivation and intention to quit smoking have been conducted among adolescents and young adults but little is known regarding middle-aged subjects. We aimed to assess the trends and determinants of smoking status in a population-based cohort. METHOD: Observational,…
Prevalence and characteristics of positional sleep apnea in the HypnoLaus population-based cohort.
OBJECTIVE/BACKGROUND: To determine the prevalence of positional obstructive sleep apnea (POSA) and exclusive POSA (ePOSA) in the general population and to assess the factors independently associated with POSA and ePOSA according to gender and menopausal status. PATIENTS/METHODS: Participants of the…
Association of activity status and patterns with salivary cortisol: the population-based CoLaus study.
PURPOSE: Physical activity (PA) has been shown to influence salivary cortisol concentrations in small studies conducted among athletes. We assessed the association of activity status and patterns with salivary cortisol in the general population. METHODS: Cross-sectional study including 1948 adults…
Population impact of the 2017 ACC/AHA guidelines compared with the 2013 ESH/ESC guidelines for hypertension management.
Background The 2017 ACC/AHA guidelines on hypertension management recommend the introduction of antihypertensive treatment for patients with new stage 1 hypertension thresholds (130-139/80-89 mm Hg) and with a cardiovascular disease or related condition. We compared the Swiss population and economic…
Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.
Heavy alcohol consumption is an established risk factor for hypertension; the mechanism by which alcohol consumption impact blood pressure (BP) regulation remains unknown. We hypothesized that a genome-wide association study accounting for gene-alcohol consumption interaction for BP might identify…
Do diurnal cortisol levels mediate the association between sleep disturbances and cognitive impairment?
Previous research found an association between sleep disturbances and cognitive deficits on the one hand, and between increased cortisol levels and poor cognitive performance on the other hand. We hypothesized that cortisol may, at least partially, mediate the link between sleep disturbances and…
Desire to lose weight, dietary intake and psychological correlates among middle-aged and older women. The CoLaus study.
Body dissatisfaction has been regularly associated with negative consequences on health of young women, but less is known regarding middle-aged or older women. However, body dissatisfaction in women has been seen for long as a "normative discontent" (i.e. widespread and chronic dissatisfaction)…
PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study.
BACKGROUND: Statin treatment and variants in the gene encoding HMG-CoA reductase are associated with reductions in both the concentration of LDL cholesterol and the risk of coronary heart disease, but also with modest hyperglycaemia, increased bodyweight, and modestly increased risk of type 2…
A joint view on genetic variants for adiposity differentiates subtypes with distinct metabolic implications.
The problem of the genetics of related phenotypes is often addressed by analyzing adjusted-model traits, but such traits warrant cautious interpretation. Here, we adopt a joint view of adiposity traits in ~322,154 subjects (GIANT consortium). We classify 159 signals associated with body mass index…
Periodic limb movements during sleep in stroke/TIA: Prevalence, course, and cardiovascular burden.
OBJECTIVE: To define the prevalence, time course, and associated factors of periodic limb movements during sleep (PLMS) in patients with ischemic stroke or TIA. METHODS: Patients enrolled in the prospective Sleep-Disordered Breathing in Transient Ischemia Attack (TIA)/Ischemic Stroke and Continuous…
Menopausal Hormone Therapy Is Associated With Reduced Total and Visceral Adiposity: The OsteoLaus Cohort.
Context: After menopause, fat mass (FM) and visceral adipose tissue (VAT) increase and nonbone lean body mass (LBM) decreases. Whether menopausal hormone therapy (MHT) reverses these changes remains controversial. Objective: To assess the effect of MHT on FM, VAT, and LBM before and after its…
[Gender differences in chronic kidney diseases : myth or reality ?]
Chronic kidney disease (CKD) concerns about 10 % of the population in Switzerland. Epidemiological studies suggest that women are less prone to the development of CKD than men, and progress less rapidly to end stage renal disease. This protection seems lost when entering menopause. The reasons for…
Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression.
Major depressive disorder (MDD) is a common illness accompanied by considerable morbidity, mortality, costs, and heightened risk of suicide. We conducted a genome-wide association meta-analysis based in 135,458 cases and 344,901 controls and identified 44 independent and significant loci. The…
Reexamining Dis/Similarity-Based Tests for Rare-Variant Association with Case-Control Samples.
A properly designed distance-based measure can capture informative genetic differences among individuals with different phenotypes and can be used to detect variants responsible for the phenotypes. To detect associated variants, various tests have been designed to contrast genetic dissimilarity or…
Trends and determinants of change in compliance to dietary guidelines in a Swiss community-dwelling sample.
Adherence to dietary guidelines is associated with significantly better health outcomes. Studies across the world shows that compliance with the guidelines was low, but data in Switzerland are lacking. Hence, we aimed to assess the 5-year trends in dietary compliance regarding food guidelines in…
Genetic Factors Explain a Major Fraction of the 50% Lower Lipoprotein(a) Concentrations in Finns.
OBJECTIVE: Lp(a) (lipoprotein(a)) concentrations are widely genetically determined by the LPA isoforms and show 5-fold interpopulation differences. Two- to 3-fold differences have been reported even within Europe. Finns represent a distinctive population isolate within Europe and have been…
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734…
The bidirectional relationship between anxiety disorders and circulating levels of inflammatory markers: Results from a large longitudinal population-based study.
BACKGROUND: Although there has been abundant research on chronic low-grade inflammation as a potential mechanism underlying the link between mood disorders and cardiovascular risk, less is known about the role of inflammatory factors and anxiety disorders. The aim of this paper is to evaluate the…
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.
OBJECTIVE: Congenital hypogonadotropic hypogonadism (CHH) and constitutional delay of growth and puberty (CDGP) represent rare and common forms of GnRH deficiency, respectively. Both CDGP and CHH present with delayed puberty, and the distinction between these two entities during early adolescence is…
Networks of myelin covariance.
Networks of anatomical covariance have been widely used to study connectivity patterns in both normal and pathological brains based on the concurrent changes of morphometric measures (i.e., cortical thickness) between brain structures across subjects (Evans, ). However, the existence of networks of…
Mood disorders and circulating levels of inflammatory markers in a longitudinal population-based study.
BACKGROUND: There has been increasing evidence that chronic low-grade inflammation is associated with mood disorders. However, the findings have been inconsistent because of heterogeneity across studies and methodological limitations. Our aim is to prospectively evaluate the bi-directional…
Prevalence and Determinants of REM Sleep Behavior Disorder in the General Population.
Study Objectives: REM sleep behavior disorder (RBD) is a parasomnia associated with neurodegenerative synucleinopathies. Its prevalence is largely unknown. This study determined the prevalence and characteristics of RBD in the general population using gold-standard polysomnography. Methods: Full…
Characteristics and determinants of respiratory event associated leg movements.
Study Objectives: To (i) replicate the recently described distribution of respiratory event associated leg movements (rLM) in subjects with mild to moderate obstructive sleep apnea syndrome (OSAS), (ii) explore global and local factors associated with the presence of rLM, and (iii) investigate…
Socio-demographic and lifestyle determinants of dietary patterns in French-speaking Switzerland, 2009-2012.
BACKGROUND: Food intake is a complex behaviour which can be assessed using dietary patterns. Our aim was to characterize dietary patterns and associated factors in French-speaking Switzerland. METHODS: Cross-sectional study conducted between 2009 and 2012 in the city of Lausanne, Switzerland,…
Clinical significance of periodic limb movements during sleep: the HypnoLaus study.
OBJECTIVE: Periodic limb movements during sleep (PLMS) are prevalent in the general population, but their impact on sleep and association with cardiometabolic disorders are a matter of debate. METHODS: Data from 2162 participants (51.2% women, mean age 58.4 +/- 11.1 years) of the population-based…
The NoSAS score: A new and simple screening tool for obstructive sleep apnea syndrome in depressive disorder.
BACKGROUND: Since the clinical presentation of obstructive sleep apnea syndrome (OSAS) shares common features with major depressive (MDE), the screening of OSAS is challenging in this population. The aim of this study was to assess the effectiveness of the NoSAS score in predicting the presence of…
The protocadherin 17 gene affects cognition, personality, amygdala structure and function, synapse development and risk of major mood disorders.
Major mood disorders, which primarily include bipolar disorder and major depressive disorder, are the leading cause of disability worldwide and pose a major challenge in identifying robust risk genes. Here, we present data from independent large-scale clinical data sets (including 29 557 cases and…
Predictors of remission from PTSD symptoms after sexual and non-sexual trauma in the community: A mediated survival-analytic approach.
Epidemiological data on the chronicity of posttraumatic stress disorder (PTSD) symptoms in relation to trauma type and underlying pathways are rare. The current study explored how PTSD symptoms change over time across different trauma types and examined mediators of their persistence. A…
Genome-wide gene-environment interaction in depression: A systematic evaluation of candidate genes: The childhood trauma working-group of PGC-MDD.
Gene by environment (GxE) interaction studies have investigated the influence of a number of candidate genes and variants for major depressive disorder (MDD) on the association between childhood trauma and MDD. Most of these studies are hypothesis driven and investigate only a limited number of SNPs…
Assessment and characterization of phenotypic heterogeneity of anxiety disorders across five large cohorts.
To achieve sample sizes necessary for effectively conducting genome-wide association studies (GWASs), researchers often combine data from samples possessing multiple potential sources of heterogeneity. This is particularly relevant for psychiatric disorders, where symptom self-report, differing…
Adherence to dietary recommendations is not associated with depression in two Swiss population-based samples.
Little is known about adherence to dietary recommendations and depression. Furthermore, dietary habits may differ among depression subtypes, which has not been evaluated previously. Two population-based Swiss studies, including 3620 individuals from PsyCoLaus and 11,032 individuals from the Swiss…
Associations of specific phobia and its subtypes with physical diseases: an adult community study.
BACKGROUND: Specific phobia is the most prevalent anxiety disorder in the community and is associated with substantial impairment. Comorbidity with physical diseases is assumed and has important implications for etiology, treatment, or prevention of the comorbid conditions. However, due to…
Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk.
The timing of puberty is a highly polygenic childhood trait that is epidemiologically associated with various adult diseases. Using 1000 Genomes Project-imputed genotype data in up to approximately 370,000 women, we identify 389 independent signals (P < 5 x 10(-8)) for age at menarche, a milestone…
Trends in vitamin, mineral and dietary supplement use in Switzerland. The CoLaus study.
BACKGROUND/OBJECTIVES: Vitamin/mineral (VMS) and dietary supplements (DS) use is common in Switzerland, but nothing is known regarding the factors associated with their initiation, discontinuation or continuation of intake. SUBJECTS/METHODS: Prospective study conducted between 2003-2006 and…
Psychiatric symptoms and response quality to self-rated personality tests: Evidence from the PsyCoLaus study.
Despite the fact that research has demonstrated consistent associations between self-rated measures of personality dimensions and mental disorders, little has been undertaken to investigate the relation between psychiatric symptoms and response patterns to self-rated tests. The aim of this study was…
Meta-analysis of genome-wide association studies of anxiety disorders.
Anxiety disorders (ADs), namely generalized AD, panic disorder and phobias, are common, etiologically complex conditions with a partially genetic basis. Despite differing on diagnostic definitions based on clinical presentation, ADs likely represent various expressions of an underlying common…
Individuals' quality of life linked to major life events, perceived social support, and personality traits.
PURPOSE: The aim of this study was to investigate the relationship between major recent life events that occurred during the last 5 years, social and personal resources, and subjective quality of life (QoL). METHODS: A total of 1801 participants from the general population (CoLaus/PsyCoLaus study)…
A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape.
Large consortia have revealed hundreds of genetic loci associated with anthropometric traits, one trait at a time. We examined whether genetic variants affect body shape as a composite phenotype that is represented by a combination of anthropometric traits. We developed an approach that calculates…
Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels.
Leptin is an adipocyte-secreted hormone, the circulating levels of which correlate closely with overall adiposity. Although rare mutations in the leptin (LEP) gene are well known to cause leptin deficiency and severe obesity, no common loci regulating circulating leptin levels have been uncovered.…
Genome-Wide Meta-Analysis Unravels Interactions between Magnesium Homeostasis and Metabolic Phenotypes.
Magnesium (Mg(2+)) homeostasis is critical for metabolism. However, the genetic determinants of the renal handling of Mg(2+), which is crucial for Mg(2+) homeostasis, and the potential influence on metabolic traits in the general population are unknown. We obtained plasma and urine parameters from…
New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk.
To increase our understanding of the genetic basis of adiposity and its links to cardiometabolic disease risk, we conducted a genome-wide association meta-analysis of body fat percentage (BF%) in up to 100,716 individuals. Twelve loci reached genome-wide significance (P<5 x 10(-8)), of which eight…
Anxiety Disorders are Associated with Low Socioeconomic Status in Women but Not in Men.
OBJECTIVES: We investigated to what extent the lifetime prevalence of anxiety disorders relates to negative economic changes, taking important lifestyle factors and unexpected life events into consideration. METHODS: We included 3,695 participants recruited in the city of Lausanne (Switzerland),…
Defining the role of common variation in the genomic and biological architecture of adult human height.
Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in independent studies, we show that the most strongly associated approximately…
High leptin levels are associated with migraine with aura.
Background Migraine is a prevalent disorder characterised by recurrent headache attacks preceded or accompanied by aura in a subgroup of patients. Migraine often occurs together with major depressive disorder (MDD). Alterations of adipokine levels have been reported both in migraine and in MDD. In…
Quality control and conduct of genome-wide association meta-analyses.
Rigorous organization and quality control (QC) are necessary to facilitate successful genome-wide association meta-analyses (GWAMAs) of statistics aggregated across multiple genome-wide association studies. This protocol provides guidelines for (i) organizational aspects of GWAMAs, and for (ii) QC…
Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses.
Very few genetic variants have been associated with depression and neuroticism, likely because of limitations on sample size in previous studies. Subjective well-being, a phenotype that is genetically correlated with both of these traits, has not yet been studied with genome-wide data. We conducted…
Genetic effects influencing risk for major depressive disorder in China and Europe.
Major depressive disorder (MDD) is a common, complex psychiatric disorder and a leading cause of disability worldwide. Despite twin studies indicating its modest heritability (~30-40%), extensive heterogeneity and a complex genetic architecture have complicated efforts to detect associated genetic…
Genetic studies of body mass index yield new insights for obesity biology.
Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224…
Prevalence and determinants of polypharmacy in Switzerland: data from the CoLaus study.
BACKGROUND: Polypharmacy is a frequent condition, but its prevalence and determinants in the Swiss mid-aged population are unknown. We aimed to evaluate the prevalence and determinants of polypharmacy in a large Swiss mid-aged population-based sample. METHODS: Data from 4938 participants of the…
A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease.
Regulatory authorities have indicated that new drugs to treat type 2 diabetes (T2D) should not be associated with an unacceptable increase in cardiovascular risk. Human genetics may be able to guide development of antidiabetic therapies by predicting cardiovascular and other health endpoints. We…
Metabomatching: Using genetic association to identify metabolites in proton NMR spectroscopy.
A metabolome-wide genome-wide association study (mGWAS) aims to discover the effects of genetic variants on metabolome phenotypes. Most mGWASes use as phenotypes concentrations of limited sets of metabolites that can be identified and quantified from spectral information. In contrast, in an…
Hair Cortisol in Twins: Heritability and Genetic Overlap with Psychological Variables and Stress-System Genes.
Hair cortisol concentration (HCC) is a promising measure of long-term hypothalamus-pituitary-adrenal (HPA) axis activity. Previous research has suggested an association between HCC and psychological variables, and initial studies of inter-individual variance in HCC have implicated genetic factors.…
Vitamin D and cognitive function: A Mendelian randomisation study.
The causal nature of the association between hypovitaminosis D and poor cognitive function in mid- to later-life is uncertain. Using a Mendelian randomisation(MR) approach, we examined the causal relationship between 25(OH)D and cognitive function. Data came from 172,349 participants from 17…
A genome-wide association meta-analysis on apolipoprotein A-IV concentrations.
Apolipoprotein A-IV (apoA-IV) is a major component of HDL and chylomicron particles and is involved in reverse cholesterol transport. It is an early marker of impaired renal function. We aimed to identify genetic loci associated with apoA-IV concentrations and to investigate relationships with known…
Worldwide trends in body-mass index, underweight, overweight, and obesity from 1975 to 2016: a pooled analysis of 2416 population-based measurement studies in 128.9 million children, adolescents, and adults.
BACKGROUND: Underweight, overweight, and obesity in childhood and adolescence are associated with adverse health consequences throughout the life-course. Our aim was to estimate worldwide trends in mean body-mass index (BMI) and a comprehensive set of BMI categories that cover underweight to obesity…
No interaction between alcohol consumption and HDL-related genes on HDL cholesterol levels.
OBJECTIVE: To assess the relationships and possible interactions between polymorphisms related to HDL levels and alcohol consumption. METHODS: Cross-sectional population-based study including 2863 women and 2546 men aged 35-75 years (CoLaus study). Alcohol intake was assessed by the reported alcohol…
Modulation of genetic associations with serum urate levels by body-mass-index in humans.
We tested for interactions between body mass index (BMI) and common genetic variants affecting serum urate levels, genome-wide, in up to 42569 participants. Both stratified genome-wide association (GWAS) analyses, in lean, overweight and obese individuals, and regression-type analyses in a non…
Impact of CD14 Polymorphisms on Anti-Apolipoprotein A-1 IgG-Related Coronary Artery Disease Prediction in the General Population.
OBJECTIVE: We aimed to determine whether autoantibodies against apoA-1 (apolipoprotein A-1; anti-apoA-1 IgG) predict incident coronary artery disease (CAD), defined as adjudicated incident myocardial infarction, angina, percutaneous coronary revascularization, or bypass grafting, in the general…
Life events, salivary cortisol, and cognitive performance in nondemented subjects: a population-based study.
Older people are particularly exposed to stressful events, known to activate the hypothalamus-pituitary-adrenal axis resulting in increased cortisol levels. High cortisol has been associated with deleterious effects on cognition. We hypothesized that stressful life events could increase cortisol…
Common variants at 2q11.2, 8q21.3, and 11q13.2 are associated with major mood disorders.
Bipolar disorder (BPD) and major depressive disorder (MDD) are primary major mood disorders. Recent studies suggest that they share certain psychopathological features and common risk genes, but unraveling the full genetic architecture underlying the risk of major mood disorders remains an important…
No association between grip strength and cardiovascular risk: The CoLaus population-based study.
BACKGROUND: Decreased grip strength (GS) is predictive of cardiovascular (CV) disease but whether it improves CV risk prediction has not been evaluated. We assessed the predictive value of low GS on incident CV events and overall mortality taking into account CV risk equations in a population-based…
ORMDL3 expression levels have no influence on the activity of serine palmitoyltransferase.
ORMDL proteins are believed to be negative regulators of serine palmitoyltransferase (SPT), which catalyzes the first and rate limiting step in sphingolipid (SL) de novo synthesis. Several single-nucleotide polymorphisms (SNPs) that are close to the ORMDL3 locus have been reported to increase ORMDL3…
The NoSAS score for screening of sleep-disordered breathing: a derivation and validation study.
BACKGROUND: Diagnosis of sleep-disordered breathing requires overnight recordings, such as polygraphy or polysomnography. Considering the cost and low availability of these procedures, preselection of patients at high risk is recommended. We aimed to develop a screening tool allowing identification…
New genetic loci link adipose and insulin biology to body fat distribution.
Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide…
Interaction between the FTO gene, body mass index and depression: meta-analysis of 13701 individuals.
BackgroundDepression and obesity are highly prevalent, and major impacts on public health frequently co-occur. Recently, we reported that having depression moderates the effect of the FTO gene, suggesting its implication in the association between depression and obesity.AimsTo confirm these findings…
Genetic Association of Major Depression With Atypical Features and Obesity-Related Immunometabolic Dysregulations.
Importance: The association between major depressive disorder (MDD) and obesity may stem from shared immunometabolic mechanisms particularly evident in MDD with atypical features, characterized by increased appetite and/or weight (A/W) during an active episode. Objective: To determine whether…
Impact of smoking on fertility and age of menopause: a population-based assessment.
BACKGROUND AND AIMS: Studies in patients seeking medically assisted reproduction have shown that smoking reduces fertility, but little information is available in the general population. We assessed the associations between smoking and the number of children, childbearing planning and age at…
Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.
Few genome-wide association studies (GWAS) account for environmental exposures, like smoking, potentially impacting the overall trait variance when investigating the genetic contribution to obesity-related traits. Here, we use GWAS data from 51,080 current smokers and 190,178 nonsmokers (87%…
Prevalence and correlates of DSM-5 major depressive and related disorders in the community.
Although the DSM-5 has suggested the two new categories of Persistent Depressive Disorders (PDD) and Other Specified Depressive Disorders (OSDD), no study so far has applied the DSM-5 criteria throughout the range of depressive disorders. The aims of the present study were to 1) establish the…
Plasma Dihydroceramides Are Diabetes Susceptibility Biomarker Candidates in Mice and Humans.
Plasma metabolite concentrations reflect the activity of tissue metabolic pathways and their quantitative determination may be informative about pathogenic conditions. We searched for plasma lipid species whose concentrations correlate with various parameters of glucose homeostasis and…
A century of trends in adult human height.
Being taller is associated with enhanced longevity, and higher education and earnings. We reanalysed 1472 population-based studies, with measurement of height on more than 18.6 million participants to estimate mean height for people born between 1896 and 1996 in 200 countries. The largest gain in…
Across-cohort QC analyses of GWAS summary statistics from complex traits.
Genome-wide association studies (GWASs) have been successful in discovering SNP trait associations for many quantitative traits and common diseases. Typically, the effect sizes of SNP alleles are very small and this requires large genome-wide association meta-analyses (GWAMAs) to maximize…
Genome-wide analysis identifies 12 loci influencing human reproductive behavior.
The genetic architecture of human reproductive behavior-age at first birth (AFB) and number of children ever born (NEB)-has a strong relationship with fitness, human development, infertility and risk of neuropsychiatric disorders. However, very few genetic loci have been identified, and the…
Worldwide trends in diabetes since 1980: a pooled analysis of 751 population-based studies with 4.4 million participants.
BACKGROUND: One of the global targets for non-communicable diseases is to halt, by 2025, the rise in the age-standardised adult prevalence of diabetes at its 2010 levels. We aimed to estimate worldwide trends in diabetes, how likely it is for countries to achieve the global target, and how changes…
Low birth weight leads to obesity, diabetes and increased leptin levels in adults: the CoLaus study.
BACKGROUND: Low birth weight is associated with increased rates of obesity, insulin resistance and type 2 diabetes, but the precise mechanisms for this association remain unclear. We aimed to assess the relationships between birth weight and markers of glucose homeostasis or obesity in adults.…
Effects of diabetes definition on global surveillance of diabetes prevalence and diagnosis: a pooled analysis of 96 population-based studies with 331,288 participants.
BACKGROUND: Diabetes has been defined on the basis of different biomarkers, including fasting plasma glucose (FPG), 2-h plasma glucose in an oral glucose tolerance test (2hOGTT), and HbA1c. We assessed the effect of different diagnostic definitions on both the population prevalence of diabetes and…
Prospective associations of depression subtypes with cardio-metabolic risk factors in the general population.
The mechanisms and temporal sequence underlying the association between major depressive disorder (MDD) and cardio-metabolic diseases are still poorly understood. Recent research suggests subtyping depression to study the mechanisms underlying its association with biological correlates. Accordingly,…
Determinants of the development of post-traumatic stress disorder, in the general population.
PURPOSE: To assess (1) the lifetime prevalence of exposure both to trauma and post-traumatic stress disorder (PTSD); (2) the risk of PTSD by type of trauma; and (3) the determinants of the development of PTSD in the community. METHODS: The Diagnostic Interview for Genetic Studies was administered to…
Smoking offsets the metabolic benefits of parental longevity in women: the CoLaus study.
OBJECTIVE: We evaluated whether subjects with long-lived parents show lower levels of cardiovascular risk factors, including the metabolic syndrome. METHODS: We analyzed data from a Swiss population-based sample (1163 men and 1398 women) aged 55-75 years from Lausanne. Participants were stratified…
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
To newly identify loci for age at natural menopause, we carried out a meta-analysis of 22 genome-wide association studies (GWAS) in 38,968 women of European descent, with replication in up to 14,435 women. In addition to four known loci, we identified 13 loci newly associated with age at natural…
Metabolically healthy obesity: different prevalences using different criteria.
OBJECTIVE: To estimate the prevalence of metabolically healthy obesity (MHO) according to different definitions. METHODS: Population-based sample of 2803 women and 2557 men participated in the study. Metabolic abnormalities were defined using six sets of criteria, which included different…
Iron metabolism and incidence of metabolic syndrome.
BACKGROUND AND AIMS: Whether iron metabolism affects metabolic syndrome (METS) is debated. We assessed the association between several markers of iron metabolism and incidence of METS. METHODS AND RESULTS: Data from 3271 participants (1870 women, 51.3 +/- 10.4 years), free of METS at baseline and…
Prevalence of sleep-disordered breathing in the general population: the HypnoLaus study.
BACKGROUND: Sleep-disordered breathing is associated with major morbidity and mortality. However, its prevalence has mainly been selectively studied in populations at risk for sleep-disordered breathing or cardiovascular diseases. Taking into account improvements in recording techniques and new…
Do bipolar subjects' responses to personality questionnaires lack reliability? Evidence from the PsyCoLaus study.
Differences in personality scores between subjects with and without mood disorders might result from response biases rather than specific personality traits per se. The aim of this study was to compare subjects with bipolar disorders (BPD) to non-bipolar subjects in terms of response quality to the…
Objective sleep structure and cardiovascular risk factors in the general population: the HypnoLaus Study.
STUDY OBJECTIVES: To evaluate the association between objective sleep measures and metabolic syndrome (MS), hypertension, diabetes, and obesity. DESIGN: Cross-sectional study. SETTING: General population sample. PARTICIPANTS: There were 2,162 patients (51.2% women, mean age 58.4 +/- 11.1).…
National, regional, and global trends in fasting plasma glucose and diabetes prevalence since 1980: systematic analysis of health examination surveys and epidemiological studies with 370 country-years and 2.7 million participants.
BACKGROUND: Data for trends in glycaemia and diabetes prevalence are needed to understand the effects of diet and lifestyle within populations, assess the performance of interventions, and plan health services. No consistent and comparable global analysis of trends has been done. We estimated trends…
Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function.
In conducting genome-wide association studies (GWAS), analytical approaches leveraging biological information may further understanding of the pathophysiology of clinical traits. To discover novel associations with estimated glomerular filtration rate (eGFR), a measure of kidney function, we…
Impact of HSD11B1 polymorphisms on BMI and components of the metabolic syndrome in patients receiving psychotropic treatments.
BACKGROUND: Metabolic syndrome (MetS) associated with psychiatric disorders and psychotropic treatments represents a major health issue. 11beta-Hydroxysteroid dehydrogenase type 1 (11beta-HSD1) is an enzyme that catalyzes tissue regeneration of active cortisol from cortisone. Elevated enzymatic…
The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome.
BACKGROUND: Cardiovascular diseases and their associated risk factors remain the main cause of mortality in western societies. In order to assess the prevalence of cardiovascular risk factors (CVRFs) in the Caucasian population of Lausanne, Switzerland, we conducted a population-based study (Colaus…
Cardiovascular disease, chronic kidney disease, and diabetes mortality burden of cardiometabolic risk factors from 1980 to 2010: a comparative risk assessment.
BACKGROUND: High blood pressure, blood glucose, serum cholesterol, and BMI are risk factors for cardiovascular diseases and some of these factors also increase the risk of chronic kidney disease and diabetes. We estimated mortality from cardiovascular diseases, chronic kidney disease, and diabetes…
Did Dumbo suffer a heart attack? independent association between earlobe crease and cardiovascular disease.
BACKGROUND: Earlobe crease (ELC) has been associated with cardiovascular diseases (CVD) or risk factors (CVRF) and could be a marker predisposing to CVD. However, most studies studied only a small number of CVRF and no complete assessment of the associations between ELC and CVRF has been performed…
Markers of iron metabolism and metabolic syndrome in Swiss adults.
A low-frequency variant in MAPK14 provides mechanistic evidence of a link with myeloperoxidase: a prognostic cardiovascular risk marker.
BACKGROUND: Genetics can be used to predict drug effects and generate hypotheses around alternative indications. To support Losmapimod, a p38 mitogen-activated protein kinase inhibitor in development for acute coronary syndrome, we characterized gene variation in MAPK11/14 genes by exome sequencing…
Opinions on tobacco control policies in Lausanne, Switzerland, 2003-2006.
OBJECTIVE: To assess the determinants of opinions regarding tobacco control policies in the Swiss general population. METHODS: Cross-sectional study conducted between 2003 and 2006 on a random sample of adult residents of Lausanne, Switzerland, aged 35-75 years (2601 women and 2398 men). Nine…
Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals.
OBJECTIVE: Plasma adiponectin is strongly associated with various components of metabolic syndrome, type 2 diabetes and cardiovascular outcomes. Concentrations are highly heritable and differ between men and women. We therefore aimed to investigate the genetics of plasma adiponectin in men and…
Alcohol drinking, the metabolic syndrome and diabetes in a population with high mean alcohol consumption.
AIMS: To investigate the relationship of alcohol consumption with the metabolic syndrome and diabetes in a population-based study with high mean alcohol consumption. Few data exist on these conditions in high-risk drinkers. METHODS: In 6172 adults aged 35-75 years, alcohol consumption was…
Partially distinct combinations of psychological, metabolic and inflammatory risk factors are prospectively associated with the onset of the subtypes of Major Depressive Disorder in midlife.
BACKGROUND: Given the well known heterogeneity of Major Depressive Disorder (MDD), dividing this complex disorder into subtypes is likely to be a more promising approach to identify its determinants than to study it as a whole. METHODS: In a prospective population-based cohort study…
Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease.
Scavenger receptor BI (SR-BI) is the major receptor for high-density lipoprotein (HDL) cholesterol (HDL-C). In humans, high amounts of HDL-C in plasma are associated with a lower risk of coronary heart disease (CHD). Mice that have depleted Scarb1 (SR-BI knockout mice) have markedly elevated HDL-C…
Association of CRTC1 polymorphisms with obesity markers in subjects from the general population with lifetime depression.
BACKGROUND: Psychiatric disorders have been hypothesized to share common etiological pathways with obesity, suggesting related neurobiological bases. We aimed to examine whether CRTC1 polymorphisms were associated with major depressive disorder (MDD) and to test the association of these…
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.
Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication…
Is the adiposity-associated FTO gene variant related to all-cause mortality independent of adiposity? Meta-analysis of data from 169,551 Caucasian adults.
Previously, a single nucleotide polymorphism (SNP), rs9939609, in the FTO gene showed a much stronger association with all-cause mortality than expected from its association with body mass index (BMI), body fat mass index (FMI) and waist circumference (WC). This finding implies that the SNP has…
Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.
Coffee, a major dietary source of caffeine, is among the most widely consumed beverages in the world and has received considerable attention regarding health risks and benefits. We conducted a genome-wide (GW) meta-analysis of predominately regular-type coffee consumption (cups per day) among up to…
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
Approaches exploiting trait distribution extremes may be used to identify loci associated with common traits, but it is unknown whether these loci are generalizable to the broader population. In a genome-wide search for loci associated with the upper versus the lower 5th percentiles of body mass…
Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption.
Alcohol consumption is a moderately heritable trait, but the genetic basis in humans is largely unknown, despite its clinical and societal importance. We report a genome-wide association study meta-analysis of approximately 2.5 million directly genotyped or imputed SNPs with alcohol consumption…
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
Age at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-cause mortality. Studies of rare human disorders of puberty and animal…
A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms.
High lipoprotein (a) [Lp(a)] concentrations are an independent risk factor for cardiovascular outcomes. Concentrations are strongly influenced by apo(a) kringle IV repeat isoforms. We aimed to identify genetic loci associated with Lp(a) concentrations using data from five genome-wide association…
NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality.
Disorders of water balance, an excess or deficit of total body water relative to body electrolyte content, are common and ascertained by plasma hypo- or hypernatremia, respectively. We performed a two-stage genome-wide association study meta-analysis on plasma sodium concentration in 45,889…
Prevalence of sleep apnoea syndrome in the middle to old age general population.
Of weekend warriors and couch potatoes: Socio-economic determinants of physical activity in Swiss middle-aged adults.
Determinants of the interplay between physical activity (PA) and sedentary (SE) status are poorly known. We assessed the socio-economic determinants of PA and SE behaviours and patterns in a population-based study (The CoLaus study, Lausanne, Switzerland, 2014-2017). 2229 adults (51.8% women, age…
Sex difference and the role of leptin in the association between high-sensitivity C-reactive protein and adiposity in two different populations.
Elevated high-sensitivity C-reactive protein (hs-CRP) concentration is associated with an increased risk of cardiovascular disease but this association seems to be largely mediated via conventional cardiovascular risk factors. In particular, the association between hs-CRP and obesity has been…
Plasma Concentrations of Afamin Are Associated With Prevalent and Incident Type 2 Diabetes: A Pooled Analysis in More Than 20,000 Individuals.
OBJECTIVE: The human vitamin E-binding glycoprotein afamin is primarily expressed in the liver and has been associated with prevalent and incident metabolic syndrome. These data were in line with observations in transgenic mice. We thus investigated whether afamin concentrations are associated with…
Hypomania Checklist-32 - cross-validation of shorter versions screening for bipolar disorders in an epidemiological study.
OBJECTIVE: Self-reports such as Hypomania Checklist (HCL-32) can be used to enhance recognition of bipolar disorders, but they are often too long and only validated in clinical samples. The objectives of this study are therefore to test whether (i) the HCL-32 can be used for screening in the…
Genome-wide meta-analysis associates HLA-DQA1/DRB1 and LPA and lifestyle factors with human longevity.
Genomic analysis of longevity offers the potential to illuminate the biology of human aging. Here, using genome-wide association meta-analysis of 606,059 parents' survival, we discover two regions associated with longevity (HLA-DQA1/DRB1 and LPA). We also validate previous suggestions that APOE,…
A genetic variant in the catechol-O-methyl transferase (COMT) gene is related to age-dependent differences in the therapeutic effect of calcium-channel blockers.
Hypertension is the leading risk factor for cardiovascular disease and one of the major health concerns worldwide. Genetic factors impact both the risk for hypertension and the therapeutic effect of antihypertensive drugs. Sex- and age-specific variances in the prevalence of hypertension are partly…
Grip strength is not associated with incident type 2 diabetes mellitus in healthy adults: The CoLaus study.
AIMS: We examined the association of grip strength with incident type 2 diabetes mellitus (T2DM) in healthy subjects initially aged 50 to 75years after a follow-up of 5.5years and 10.7years. METHODS: This was a prospective, population-based study derived from the CoLaus (Cohorte Lausannoise) study…
Common variants in CLDN14 are associated with differential excretion of magnesium over calcium in urine.
The nature and importance of genetic factors regulating the differential handling of Ca(2+) and Mg(2+) by the renal tubule in the general population are poorly defined. We conducted a genome-wide meta-analysis of urinary magnesium-to-calcium ratio to identify associated common genetic variants. We…
The Uromodulin Gene Locus Shows Evidence of Pathogen Adaptation through Human Evolution.
Common variants in the UMOD gene encoding uromodulin, associated with risk of hypertension and CKD in the general population, increase UMOD expression and urinary excretion of uromodulin, causing salt-sensitive hypertension and renal lesions. To determine the effect of selective pressure on variant…
High Evening Cortisol Level Is Associated With Low TBS and Increased Prevalent Vertebral Fractures: OsteoLaus Study.
Context: Increased evening cortisol levels have been implicated in bone mineral density (BMD) loss. The effect on bone microarchitecture and fracture risk has never been studied. Objective: To study the relationship between salivary cortisol circadian rhythm and (1) trabecular bone score (TBS) and…
Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index.
The maintenance of normal body weight is disrupted in patients with anorexia nervosa (AN) for prolonged periods of time. Prior to the onset of AN, premorbid body mass index (BMI) spans the entire range from underweight to obese. After recovery, patients have reduced rates of overweight and obesity.…
An Analysis of Two Genome-wide Association Meta-analyses Identifies a New Locus for Broad Depression Phenotype.
BACKGROUND: The genetics of depression has been explored in genome-wide association studies that focused on either major depressive disorder or depressive symptoms with mostly negative findings. A broad depression phenotype including both phenotypes has not been tested previously using a genome-wide…
Risk prediction of developing venous thrombosis in combined oral contraceptive users.
BACKGROUND: Venous thromboembolism (VTE) is a complex multifactorial disease influenced by genetic and environmental risk factors. An example for the latter is the regular use of combined oral contraceptives (CC), which increases the risk to develop VTE by 3 to 7 fold, depending on estrogen dosage…
Approaches to detect genetic effects that differ between two strata in genome-wide meta-analyses: Recommendations based on a systematic evaluation.
Genome-wide association meta-analyses (GWAMAs) conducted separately by two strata have identified differences in genetic effects between strata, such as sex-differences for body fat distribution. However, there are several approaches to identify such differences and an uncertainty which approach to…
Comparing two basic subtypes in OCD across three large community samples: a pure compulsive versus a mixed obsessive-compulsive subtype.
Due to its heterogeneous phenomenology, obsessive-compulsive disorder (OCD) has been subtyped. However, these subtypes are not mutually exclusive. This study presents an alternative subtyping approach by deriving non-overlapping OCD subtypes. A pure compulsive and a mixed obsessive-compulsive…
Pure animal phobia is more specific than other specific phobias: epidemiological evidence from the Zurich Study, the ZInEP and the PsyCoLaus.
Interest in subtypes of mental disorders is growing in parallel with continuing research progress in psychiatry. The aim of this study was to examine pure animal phobia in contrast to other specific phobias and a mixed subtype. Data from three representative Swiss community samples were analysed:…
Dietary intake of subjects with diabetes is inadequate in Switzerland: the CoLaus study.
PURPOSE: To characterize the dietary intake of subjects aged 40-80 years according to self-reported diabetes and presence of an anti-diabetic diet. METHODS: Cross-sectional study conducted between 2009 and 2012 on 4289 participants (2274 women) living in Lausanne. RESULTS: Of the 299 (7 %)…
Prevalence of normal weight obesity in Switzerland: effect of various definitions.
BACKGROUND: Normal weight obesity (NWO) is defined as an excessive body fat associated with a normal body mass index (BMI < 25 kg/m(2)), but its prevalence in the general population is unknown. AIM OF THE STUDY: To assess the prevalence of NWO in Switzerland according to different cut points used to…
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
Elevated resting heart rate is associated with greater risk of cardiovascular disease and mortality. In a 2-stage meta-analysis of genome-wide association studies in up to 181,171 individuals, we identified 14 new loci associated with heart rate and confirmed associations with all 7 previously…
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.
Circulating levels of adiponectin, a hormone produced predominantly by adipocytes, are highly heritable and are inversely associated with type 2 diabetes mellitus (T2D) and other metabolic traits. We conducted a meta-analysis of genome-wide association studies in 39,883 individuals of European…
Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.
Through genome-wide association meta-analyses of up to 133,010 individuals of European ancestry without diabetes, including individuals newly genotyped using the Metabochip, we have increased the number of confirmed loci influencing glycemic traits to 53, of which 33 also increase type 2 diabetes…
Genome-wide association analysis identifies 20 loci that influence adult height.
Adult height is a model polygenic trait, but there has been limited success in identifying the genes underlying its normal variation. To identify genetic variants influencing adult human height, we used genome-wide association data from 13,665 individuals and genotyped 39 variants in an additional…
Heavier smoking may lead to a relative increase in waist circumference: evidence for a causal relationship from a Mendelian randomisation meta-analysis. The CARTA consortium.
OBJECTIVES: To investigate, using a Mendelian randomisation approach, whether heavier smoking is associated with a range of regional adiposity phenotypes, in particular those related to abdominal adiposity. DESIGN: Mendelian randomisation meta-analyses using a genetic variant (rs16969968/rs1051730…
Meta-analysis and imputation refines the association of 15q25 with smoking quantity.
Smoking is a leading global cause of disease and mortality. We established the Oxford-GlaxoSmithKline study (Ox-GSK) to perform a genome-wide meta-analysis of SNP association with smoking-related behavioral traits. Our final data set included 41,150 individuals drawn from 20 disease, population and…
FTO genotype is associated with phenotypic variability of body mass index.
There is evidence across several species for genetic control of phenotypic variation of complex traits, such that the variance among phenotypes is genotype dependent. Understanding genetic control of variability is important in evolutionary biology, agricultural selection programmes and human…
Investigating the possible causal association of smoking with depression and anxiety using Mendelian randomisation meta-analysis: the CARTA consortium.
OBJECTIVES: To investigate whether associations of smoking with depression and anxiety are likely to be causal, using a Mendelian randomisation approach. DESIGN: Mendelian randomisation meta-analyses using a genetic variant (rs16969968/rs1051730) as a proxy for smoking heaviness, and observational…
Genome-wide association study identifies eight loci associated with blood pressure.
Elevated blood pressure is a common, heritable cause of cardiovascular disease worldwide. To date, identification of common genetic variants influencing blood pressure has proven challenging. We tested 2.5 million genotyped and imputed SNPs for association with systolic and diastolic blood pressure…
Genome-wide association study to identify common variants associated with brachial circumference: a meta-analysis of 14 cohorts.
Brachial circumference (BC), also known as upper arm or mid arm circumference, can be used as an indicator of muscle mass and fat tissue, which are distributed differently in men and women. Analysis of anthropometric measures of peripheral fat distribution such as BC could help in understanding the…
Effects of long-term averaging of quantitative blood pressure traits on the detection of genetic associations.
Blood pressure (BP) is a heritable, quantitative trait with intraindividual variability and susceptibility to measurement error. Genetic studies of BP generally use single-visit measurements and thus cannot remove variability occurring over months or years. We leveraged the idea that averaging BP…
Seasonality of cardiovascular risk factors: an analysis including over 230 000 participants in 15 countries.
OBJECTIVE: To assess the seasonality of cardiovascular risk factors (CVRF) in a large set of population-based studies. METHODS: Cross-sectional data from 24 population-based studies from 15 countries, with a total sample size of 237 979 subjects. CVRFs included Body Mass Index (BMI) and waist…
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
Chronic kidney disease (CKD), impairment of kidney function, is a serious public health problem, and the assessment of genetic factors influencing kidney function has substantial clinical relevance. Here, we report a meta-analysis of genome-wide association studies for kidney function-related…
Interactions of dietary whole-grain intake with fasting glucose- and insulin-related genetic loci in individuals of European descent: a meta-analysis of 14 cohort studies.
OBJECTIVE: Whole-grain foods are touted for multiple health benefits, including enhancing insulin sensitivity and reducing type 2 diabetes risk. Recent genome-wide association studies (GWAS) have identified several single nucleotide polymorphisms (SNPs) associated with fasting glucose and insulin…
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
Blood pressure is a heritable trait influenced by several biological pathways and responsive to environmental stimuli. Over one billion people worldwide have hypertension (>/=140 mm Hg systolic blood pressure or >/=90 mm Hg diastolic blood pressure). Even small increments in blood pressure are…
Effect of Smoking on Blood Pressure and Resting Heart Rate: A Mendelian Randomization Meta-Analysis in the CARTA Consortium.
BACKGROUND: Smoking is an important cardiovascular disease risk factor, but the mechanisms linking smoking to blood pressure are poorly understood. METHODS AND RESULTS: Data on 141 317 participants (62 666 never, 40 669 former, 37 982 current smokers) from 23 population-based studies were included…
Multi-ethnic fine-mapping of 14 central adiposity loci.
The Genetic Investigation of Anthropometric Traits (GIANT) consortium identified 14 loci in European Ancestry (EA) individuals associated with waist-to-hip ratio (WHR) adjusted for body mass index. These loci are wide and narrowing the signals remains necessary. Twelve of 14 loci identified in GIANT…
Genome-wide Regional Heritability Mapping Identifies a Locus Within the TOX2 Gene Associated With Major Depressive Disorder.
BACKGROUND: Major depressive disorder (MDD) is the second largest cause of global disease burden. It has an estimated heritability of 37%, but published genome-wide association studies have so far identified few risk loci. Haplotype-block-based regional heritability mapping (HRHM) estimates the…
Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension.
Hypertension is a heritable and major contributor to the global burden of disease. The sum of rare and common genetic variants robustly identified so far explain only 1%-2% of the population variation in BP and hypertension. This suggests the existence of more undiscovered common variants. We…
CUBN is a gene locus for albuminuria.
Identification of genetic risk factors for albuminuria may alter strategies for early prevention of CKD progression, particularly among patients with diabetes. Little is known about the influence of common genetic variants on albuminuria in both general and diabetic populations. We performed a…
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of…
Genome-wide associations for birth weight and correlations with adult disease.
Birth weight (BW) has been shown to be influenced by both fetal and maternal factors and in observational studies is reproducibly associated with future risk of adult metabolic diseases including type 2 diabetes (T2D) and cardiovascular disease. These life-course associations have often been…
Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.
BACKGROUND: The strong observational association between total homocysteine (tHcy) concentrations and risk of coronary artery disease (CAD) and the null associations in the homocysteine-lowering trials have prompted the need to identify genetic variants associated with homocysteine concentrations…
The Population Reference Sample, POPRES: a resource for population, disease, and pharmacological genetics research.
Technological and scientific advances, stemming in large part from the Human Genome and HapMap projects, have made large-scale, genome-wide investigations feasible and cost effective. These advances have the potential to dramatically impact drug discovery and development by identifying genetic…
KLB is associated with alcohol drinking, and its gene product beta-Klotho is necessary for FGF21 regulation of alcohol preference.
Excessive alcohol consumption is a major public health problem worldwide. Although drinking habits are known to be inherited, few genes have been identified that are robustly linked to alcohol drinking. We conducted a genome-wide association metaanalysis and replication study among >105,000…
Prospective study of insulin-like growth factor-I, insulin-like growth factor-binding protein 3, genetic variants in the IGF1 and IGFBP3 genes and risk of coronary artery disease.
Although experimental studies have suggested that insulin-like growth factor I (IGF-I) and its binding protein IGFBP-3 might have a role in the aetiology of coronary artery disease (CAD), the relevance of circulating IGFs and their binding proteins in the development of CAD in human populations is…
Genetic architecture of ambulatory blood pressure in the general population: insights from cardiovascular gene-centric array.
Genetic determinants of blood pressure are poorly defined. We undertook a large-scale, gene-centric analysis to identify loci and pathways associated with ambulatory systolic and diastolic blood pressure. We measured 24-hour ambulatory blood pressure in 2020 individuals from 520 white European…
A genome-wide association study of early menopause and the combined impact of identified variants.
Early menopause (EM) affects up to 10% of the female population, reducing reproductive lifespan considerably. Currently, it constitutes the leading cause of infertility in the western world, affecting mainly those women who postpone their first pregnancy beyond the age of 30 years. The genetic…
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
OBJECTIVE: Genetic studies might provide new insights into the biological mechanisms underlying lipid metabolism and risk of CAD. We therefore conducted a genome-wide association study to identify novel genetic determinants of low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein…
Common variants associated with plasma triglycerides and risk for coronary artery disease.
Triglycerides are transported in plasma by specific triglyceride-rich lipoproteins; in epidemiological studies, increased triglyceride levels correlate with higher risk for coronary artery disease (CAD). However, it is unclear whether this association reflects causal processes. We used 185 common…
Genome-wide meta-analysis of common variant differences between men and women.
The male-to-female sex ratio at birth is constant across world populations with an average of 1.06 (106 male to 100 female live births) for populations of European descent. The sex ratio is considered to be affected by numerous biological and environmental factors and to have a heritable component.…
Genome-wide association study identifies 74 loci associated with educational attainment.
Educational attainment is strongly influenced by social and other environmental factors, but genetic factors are estimated to account for at least 20% of the variation across individuals. Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends our…
A genetic risk score combining 32 SNPs is associated with body mass index and improves obesity prediction in people with major depressive disorder.
BACKGROUND: Obesity is strongly associated with major depressive disorder (MDD) and various other diseases. Genome-wide association studies have identified multiple risk loci robustly associated with body mass index (BMI). In this study, we aimed to investigate whether a genetic risk score (GRS)…
Validated SNPs for eGFR and their associations with albuminuria.
Albuminuria and reduced glomerular filtration rate are manifestations of chronic kidney disease (CKD) that predict end-stage renal disease, acute kidney injury, cardiovascular disease and death. We hypothesized that SNPs identified in association with the estimated glomerular filtration rate (eGFR)…
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
Elevated serum urate concentrations can cause gout, a prevalent and painful inflammatory arthritis. By combining data from >140,000 individuals of European ancestry within the Global Urate Genetics Consortium (GUGC), we identified and replicated 28 genome-wide significant loci in association with…
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
Waist-hip ratio (WHR) is a measure of body fat distribution and a predictor of metabolic consequences independent of overall adiposity. WHR is heritable, but few genetic variants influencing this trait have been identified. We conducted a meta-analysis of 32 genome-wide association studies for WHR…
Meta-analysis of gene-level associations for rare variants based on single-variant statistics.
Meta-analysis of genome-wide association studies (GWASs) has led to the discoveries of many common variants associated with complex human diseases. There is a growing recognition that identifying "causal" rare variants also requires large-scale meta-analysis. The fact that association tests with…
Genetic variation in LIN28B is associated with the timing of puberty.
The timing of puberty is highly variable. We carried out a genome-wide association study for age at menarche in 4,714 women and report an association in LIN28B on chromosome 6 (rs314276, minor allele frequency (MAF) = 0.33, P = 1.5 x 10(-8)). In independent replication studies in 16,373 women, each…
National, regional, and global trends in body-mass index since 1980: systematic analysis of health examination surveys and epidemiological studies with 960 country-years and 9.1 million participants.
BACKGROUND: Excess bodyweight is a major public health concern. However, few worldwide comparative analyses of long-term trends of body-mass index (BMI) have been done, and none have used recent national health examination surveys. We estimated worldwide trends in population mean BMI. METHODS: We…
Directional dominance on stature and cognition in diverse human populations.
Homozygosity has long been associated with rare, often devastating, Mendelian disorders, and Darwin was one of the first to recognize that inbreeding reduces evolutionary fitness. However, the effect of the more distant parental relatedness that is common in modern human populations is less well…
Association of adiposity genetic variants with menarche timing in 92,105 women of European descent.
Obesity is of global health concern. There are well-described inverse relationships between female pubertal timing and obesity. Recent genome-wide association studies of age at menarche identified several obesity-related variants. Using data from the ReproGen Consortium, we employed meta-analytical…
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
Body fat distribution, particularly centralized obesity, is associated with metabolic risk above and beyond total adiposity. We performed genome-wide association of abdominal adipose depots quantified using computed tomography (CT) to uncover novel loci for body fat distribution among participants…
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
Numerous genetic loci have been associated with systolic blood pressure (SBP) and diastolic blood pressure (DBP) in Europeans. We now report genome-wide association studies of pulse pressure (PP) and mean arterial pressure (MAP). In discovery (N = 74,064) and follow-up studies (N = 48,607), we…
Depressive disorder moderates the effect of the FTO gene on body mass index.
There is evidence that obesity-related disorders are increased among people with depression. Variation in the FTO (fat mass and obesity associated) gene has been shown to contribute to common forms of human obesity. This study aimed to investigate the genetic influence of polymorphisms in FTO in…
Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.
Glucose levels 2 h after an oral glucose challenge are a clinical measure of glucose tolerance used in the diagnosis of type 2 diabetes. We report a meta-analysis of nine genome-wide association studies (n = 15,234 nondiabetic individuals) and a follow-up of 29 independent loci (n = 6,958-30,620).…
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
To identify loci for age at menarche, we performed a meta-analysis of 32 genome-wide association studies in 87,802 women of European descent, with replication in up to 14,731 women. In addition to the known loci at LIN28B (P = 5.4 x 10(-)(6)(0)) and 9q31.2 (P = 2.2 x 10(-)(3)(3)), we identified 30…
A genome-wide association study reveals variants in ARL15 that influence adiponectin levels.
The adipocyte-derived protein adiponectin is highly heritable and inversely associated with risk of type 2 diabetes mellitus (T2D) and coronary heart disease (CHD). We meta-analyzed 3 genome-wide association studies for circulating adiponectin levels (n = 8,531) and sought validation of the lead…
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.
A genome-wide association study (GWAS) of educational attainment was conducted in a discovery sample of 101,069 individuals and a replication sample of 25,490. Three independent single-nucleotide polymorphisms (SNPs) are genome-wide significant (rs9320913, rs11584700, rs4851266), and all three…
Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study.
The prevalence of hypertension in African Americans (AAs) is higher than in other US groups; yet, few have performed genome-wide association studies (GWASs) in AA. Among people of European descent, GWASs have identified genetic variants at 13 loci that are associated with blood pressure. It is…
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
Common variants at only two loci, FTO and MC4R, have been reproducibly associated with body mass index (BMI) in humans. To identify additional loci, we conducted meta-analysis of 15 genome-wide association studies for BMI (n > 32,000) and followed up top signals in 14 additional cohorts (n >…
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
Recent genome-wide association studies have described many loci implicated in type 2 diabetes (T2D) pathophysiology and beta-cell dysfunction but have contributed little to the understanding of the genetic basis of insulin resistance. We hypothesized that genes implicated in insulin resistance…
Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.
Elevated serum uric acid levels cause gout and are a risk factor for cardiovascular disease and diabetes. To investigate the polygenetic basis of serum uric acid levels, we conducted a meta-analysis of genome-wide association scans from 14 studies totalling 28,141 participants of European descent,…
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.
Given the anthropometric differences between men and women and previous evidence of sex-difference in genetic effects, we conducted a genome-wide search for sexually dimorphic associations with height, weight, body mass index, waist circumference, hip circumference, and waist-to-hip-ratio (133,723…
Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
Many disorders are associated with altered serum protein concentrations, including malnutrition, cancer, and cardiovascular, kidney, and inflammatory diseases. Although these protein concentrations are highly heritable, relatively little is known about their underlying genetic determinants. Through…
Mendelian randomization studies do not support a causal role for reduced circulating adiponectin levels in insulin resistance and type 2 diabetes.
Adiponectin is strongly inversely associated with insulin resistance and type 2 diabetes, but its causal role remains controversial. We used a Mendelian randomization approach to test the hypothesis that adiponectin causally influences insulin resistance and type 2 diabetes. We used genetic variants…
Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes.
Elevated concentrations of albumin in the urine, albuminuria, are a hallmark of diabetic kidney disease and are associated with an increased risk for end-stage renal disease and cardiovascular events. To gain insight into the pathophysiological mechanisms underlying albuminuria, we conducted…
Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index.
The phenotypic effect of some single nucleotide polymorphisms (SNPs) depends on their parental origin. We present a novel approach to detect parent-of-origin effects (POEs) in genome-wide genotype data of unrelated individuals. The method exploits increased phenotypic variance in the heterozygous…
Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile.
Genome-wide association studies have identified 32 loci influencing body mass index, but this measure does not distinguish lean from fat mass. To identify adiposity loci, we meta-analyzed associations between approximately 2.5 million SNPs and body fat percentage from 36,626 individuals and followed…
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Both obesity and being underweight have been associated with increased mortality. Underweight, defined as a body mass index (BMI) </= 18.5 kg per m(2) in adults and </= -2 standard deviations from the mean in children, is the main sign of a series of heterogeneous clinical conditions including…
Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity.
The limited ability of common variants to account for the genetic contribution to complex disease has prompted searches for rare variants of large effect, to partly explain the 'missing heritability'. Analyses of genome-wide genotyping data have identified genomic structural variants (GSVs) as a…
No interactions between previously associated 2-hour glucose gene variants and physical activity or BMI on 2-hour glucose levels.
Gene-lifestyle interactions have been suggested to contribute to the development of type 2 diabetes. Glucose levels 2 h after a standard 75-g glucose challenge are used to diagnose diabetes and are associated with both genetic and lifestyle factors. However, whether these factors interact to…
Socioeconomic status and the 25 x 25 risk factors as determinants of premature mortality: a multicohort study and meta-analysis of 1.7 million men and women.
BACKGROUND: In 2011, WHO member states signed up to the 25 x 25 initiative, a plan to cut mortality due to non-communicable diseases by 25% by 2025. However, socioeconomic factors influencing non-communicable diseases have not been included in the plan. In this study, we aimed to compare the…
The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.
To dissect the genetic architecture of blood pressure and assess effects on target organ damage, we analyzed 128,272 SNPs from targeted and genome-wide arrays in 201,529 individuals of European ancestry, and genotypes from an additional 140,886 individuals were used for validation. We identified 66…
Genetic Differences in the Immediate Transcriptome Response to Stress Predict Risk-Related Brain Function and Psychiatric Disorders.
Depression risk is exacerbated by genetic factors and stress exposure; however, the biological mechanisms through which these factors interact to confer depression risk are poorly understood. One putative biological mechanism implicates variability in the ability of cortisol, released in response to…
A genomewide association study of smoking relapse in four European population-based samples.
OBJECTIVES: Genomewide association studies (GWAS) have identified clear evidence of genetic markers for nicotine dependence. Other smoking phenotypes have been tested, but the results are less consistent. The tendency to relapse versus the ability to maintain long-term abstinence has received little…
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
Plasma liver-enzyme tests are widely used in the clinic for the diagnosis of liver diseases and for monitoring the response to drug treatment. There is considerable evidence that human genetic variation influences plasma levels of liver enzymes. However, such genetic variation has not been…
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
Obesity is globally prevalent and highly heritable, but its underlying genetic factors remain largely elusive. To identify genetic loci for obesity susceptibility, we examined associations between body mass index and approximately 2.8 million SNPs in up to 123,865 individuals with targeted follow up…
A mega-analysis of genome-wide association studies for major depressive disorder.
Prior genome-wide association studies (GWAS) of major depressive disorder (MDD) have met with limited success. We sought to increase statistical power to detect disease loci by conducting a GWAS mega-analysis for MDD. In the MDD discovery phase, we analyzed more than 1.2 million autosomal and X…
LDL-cholesterol concentrations: a genome-wide association study.
BACKGROUND: LDL cholesterol has a causal role in the development of cardiovascular disease. Improved understanding of the biological mechanisms that underlie the metabolism and regulation of LDL cholesterol might help to identify novel therapeutic targets. We therefore did a genome-wide association…
Genome-wide Association for Major Depression Through Age at Onset Stratification: Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium.
BACKGROUND: Major depressive disorder (MDD) is a disabling mood disorder, and despite a known heritable component, a large meta-analysis of genome-wide association studies revealed no replicable genetic risk variants. Given prior evidence of heterogeneity by age at onset in MDD, we tested whether…
Genetic variation at CHRNA5-CHRNA3-CHRNB4 interacts with smoking status to influence body mass index.
BACKGROUND: Cigarette smoking is associated with lower body mass index (BMI), and a commonly cited reason for unwillingness to quit smoking is a concern about weight gain. Common variation in the CHRNA5-CHRNA3-CHRNB4 gene region (chromosome 15q25) is robustly associated with smoking quantity in…
FTO genetic variants, dietary intake and body mass index: insights from 177,330 individuals.
FTO is the strongest known genetic susceptibility locus for obesity. Experimental studies in animals suggest the potential roles of FTO in regulating food intake. The interactive relation among FTO variants, dietary intake and body mass index (BMI) is complex and results from previous often…
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
Concentrations of liver enzymes in plasma are widely used as indicators of liver disease. We carried out a genome-wide association study in 61,089 individuals, identifying 42 loci associated with concentrations of liver enzymes in plasma, of which 32 are new associations (P = 10(-8) to P =…
The association between lower educational attainment and depression owing to shared genetic effects? Results in ~25,000 subjects.
An association between lower educational attainment (EA) and an increased risk for depression has been confirmed in various western countries. This study examines whether pleiotropic genetic effects contribute to this association. Therefore, data were analyzed from a total of 9662 major depressive…
The Lin28/let-7 axis regulates glucose metabolism.
The let-7 tumor suppressor microRNAs are known for their regulation of oncogenes, while the RNA-binding proteins Lin28a/b promote malignancy by inhibiting let-7 biogenesis. We have uncovered unexpected roles for the Lin28/let-7 pathway in regulating metabolism. When overexpressed in mice, both…
Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis.
Uromodulin is expressed exclusively in the thick ascending limb and is the most abundant protein excreted in normal urine. Variants in UMOD, which encodes uromodulin, are associated with renal function, and urinary uromodulin levels may be a biomarker for kidney disease. However, the genetic factors…
Trends in adult body-mass index in 200 countries from 1975 to 2014: a pooled analysis of 1698 population-based measurement studies with 19.2 million participants.
BACKGROUND: Underweight and severe and morbid obesity are associated with highly elevated risks of adverse health outcomes. We estimated trends in mean body-mass index (BMI), which characterises its population distribution, and in the prevalences of a complete set of BMI categories for adults in all…
Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
Calcium is vital to the normal functioning of multiple organ systems and its serum concentration is tightly regulated. Apart from CASR, the genes associated with serum calcium are largely unknown. We conducted a genome-wide association meta-analysis of 39,400 individuals from 17 population-based…
Genetic loci for retinal arteriolar microcirculation.
Narrow arterioles in the retina have been shown to predict hypertension as well as other vascular diseases, likely through an increase in the peripheral resistance of the microcirculatory flow. In this study, we performed a genome-wide association study in 18,722 unrelated individuals of European…
Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.
To identify genetic loci influencing central obesity and fat distribution, we performed a meta-analysis of 16 genome-wide association studies (GWAS, N = 38,580) informative for adult waist circumference (WC) and waist-hip ratio (WHR). We selected 26 SNPs for follow-up, for which the evidence of…
New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.
Birth weight within the normal range is associated with a variety of adult-onset diseases, but the mechanisms behind these associations are poorly understood. Previous genome-wide association studies of birth weight identified a variant in the ADCY5 gene associated both with birth weight and type 2…
National, regional, and global trends in serum total cholesterol since 1980: systematic analysis of health examination surveys and epidemiological studies with 321 country-years and 3.0 million participants.
BACKGROUND: Data for trends in serum cholesterol are needed to understand the effects of its dietary, lifestyle, and pharmacological determinants; set intervention priorities; and evaluate national programmes. Previous analyses of trends in serum cholesterol were limited to a few countries, with no…
The lumbar spine age-related degenerative disease influences the BMD not the TBS: the Osteolaus cohort.
We evaluated the influence of degenerative disease and fractured vertebra on lumbar spine bone mineral density (BMD) and trabecular bone score (TBS) in 1500 women aged 50-80 years. TBS was not affected by a degenerative disease. While BMD increases after 62.5 years, TBS continues to decline. TBS…
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
Levels of circulating glucose are tightly regulated. To identify new loci influencing glycemic traits, we performed meta-analyses of 21 genome-wide association studies informative for fasting glucose, fasting insulin and indices of beta-cell function (HOMA-B) and insulin resistance (HOMA-IR) in up…
Discovery and refinement of loci associated with lipid levels.
Levels of low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, triglycerides and total cholesterol are heritable, modifiable risk factors for coronary artery disease. To identify new loci and refine known loci influencing these lipids, we examined 188,577…
Common variants in Mendelian kidney disease genes and their association with renal function.
Many common genetic variants identified by genome-wide association studies for complex traits map to genes previously linked to rare inherited Mendelian disorders. A systematic analysis of common single-nucleotide polymorphisms (SNPs) in genes responsible for Mendelian diseases with kidney…
Genome-wide association and functional follow-up reveals new loci for kidney function.
Chronic kidney disease (CKD) is an important public health problem with a genetic component. We performed genome-wide association studies in up to 130,600 European ancestry participants overall, and stratified for key CKD risk factors. We uncovered 6 new loci in association with estimated glomerular…
Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits.
Nonalcoholic fatty liver disease (NAFLD) clusters in families, but the only known common genetic variants influencing risk are near PNPLA3. We sought to identify additional genetic variants influencing NAFLD using genome-wide association (GWA) analysis of computed tomography (CT) measured hepatic…
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
There is increasing evidence that the microcirculation plays an important role in the pathogenesis of cardiovascular diseases. Changes in retinal vascular caliber reflect early microvascular disease and predict incident cardiovascular events. We performed a genome-wide association study to identify…
Blood pressure loci identified with a gene-centric array.
Raised blood pressure (BP) is a major risk factor for cardiovascular disease. Previous studies have identified 47 distinct genetic variants robustly associated with BP, but collectively these explain only a few percent of the heritability for BP phenotypes. To find additional BP loci, we used a…
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.
Obesity has become a major worldwide challenge to public health, owing to an interaction between the Western 'obesogenic' environment and a strong genetic contribution. Recent extensive genome-wide association studies (GWASs) have identified numerous single nucleotide polymorphisms associated with…
Male-pattern baldness susceptibility locus at 20p11.
We conducted a genome-wide association study for androgenic alopecia in 1,125 men and identified a newly associated locus at chromosome 20p11.22, confirmed in three independent cohorts (n = 1,650; OR = 1.60, P = 1.1 x 10(-14) for rs1160312). The one man in seven who harbors risk alleles at both…
Stratification by smoking status reveals an association of CHRNA5-A3-B4 genotype with body mass index in never smokers.
We previously used a single nucleotide polymorphism (SNP) in the CHRNA5-A3-B4 gene cluster associated with heaviness of smoking within smokers to confirm the causal effect of smoking in reducing body mass index (BMI) in a Mendelian randomisation analysis. While seeking to extend these findings in a…
The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.
Genome-wide association studies (GWAS) have identified more than 100 genetic variants contributing to BMI, a measure of body size, or waist-to-hip ratio (adjusted for BMI, WHRadjBMI), a measure of body shape. Body size and shape change as people grow older and these changes differ substantially…
Causal relationship between obesity and vitamin D status: bi-directional Mendelian randomization analysis of multiple cohorts.
BACKGROUND: Obesity is associated with vitamin D deficiency, and both are areas of active public health concern. We explored the causality and direction of the relationship between body mass index (BMI) and 25-hydroxyvitamin D [25(OH)D] using genetic markers as instrumental variables (IVs) in…
Physical activity attenuates the influence of FTO variants on obesity risk: a meta-analysis of 218,166 adults and 19,268 children.
BACKGROUND: The FTO gene harbors the strongest known susceptibility locus for obesity. While many individual studies have suggested that physical activity (PA) may attenuate the effect of FTO on obesity risk, other studies have not been able to confirm this interaction. To confirm or refute…
Common variants in the ATP2B1 gene are associated with susceptibility to hypertension: the Japanese Millennium Genome Project.
Hypertension is one of the most common complex genetic disorders. We have described previously 38 single nucleotide polymorphisms (SNPs) with suggestive association with hypertension in Japanese individuals. In this study we extend our previous findings by analyzing a large sample of Japanese…
Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene.
Calcium has a pivotal role in biological functions, and serum calcium levels have been associated with numerous disorders of bone and mineral metabolism, as well as with cardiovascular mortality. Here we report results from a genome-wide association study of serum calcium, integrating data from four…
Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
Variation in body iron is associated with or causes diseases, including anaemia and iron overload. Here, we analyse genetic association data on biochemical markers of iron status from 11 European-population studies, with replication in eight additional cohorts (total up to 48,972 subjects). We find…
Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.
Although age-dependent effects on blood pressure (BP) have been reported, they have not been systematically investigated in large-scale genome-wide association studies (GWASs). We leveraged the infrastructure of three well-established consortia (CHARGE, GBPgen, and ICBP) and a nonstandard approach…
Genetic loci influencing kidney function and chronic kidney disease.
Using genome-wide association, we identify common variants at 2p12-p13, 6q26, 17q23 and 19q13 associated with serum creatinine, a marker of kidney function (P = 10(-10) to 10(-15)). Of these, rs10206899 (near NAT8, 2p12-p13) and rs4805834 (near SLC7A9, 19q13) were also associated with chronic kidney…
A genome-wide association search for type 2 diabetes genes in African Americans.
African Americans are disproportionately affected by type 2 diabetes (T2DM) yet few studies have examined T2DM using genome-wide association approaches in this ethnicity. The aim of this study was to identify genes associated with T2DM in the African American population. We performed a Genome Wide…
Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease.
CONTEXT: Plasma levels of C-reactive protein (CRP) are independently associated with risk of coronary heart disease, but whether CRP is causally associated with coronary heart disease or merely a marker of underlying atherosclerosis is uncertain. OBJECTIVE: To investigate association of genetic loci…
Common variants near MC4R are associated with fat mass, weight and risk of obesity.
To identify common variants influencing body mass index (BMI), we analyzed genome-wide association data from 16,876 individuals of European descent. After previously reported variants in FTO, the strongest association signal (rs17782313, P = 2.9 x 10(-6)) mapped 188 kb downstream of MC4R…
A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol.
Recent genome-wide association (GWA) studies described 95 loci controlling serum lipid levels. These common variants explain approximately 25% of the heritability of the phenotypes. To date, no unbiased screen for gene-environment interactions for circulating lipids has been reported. We screened…
Biological, clinical and population relevance of 95 loci for blood lipids.
Plasma concentrations of total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol and triglycerides are among the most important risk factors for coronary artery disease (CAD) and are targets for therapeutic intervention. We screened the genome for common variants…
Seventy-five genetic loci influencing the human red blood cell.
Anaemia is a chief determinant of global ill health, contributing to cognitive impairment, growth retardation and impaired physical capacity. To understand further the genetic factors influencing red blood cells, we carried out a genome-wide association study of haemoglobin concentration and related…
Variants in MTNR1B influence fasting glucose levels.
To identify previously unknown genetic loci associated with fasting glucose concentrations, we examined the leading association signals in ten genome-wide association scans involving a total of 36,610 individuals of European descent. Variants in the gene encoding melatonin receptor 1B (MTNR1B) were…
Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.
Elevated blood pressure is the leading heritable risk factor for cardiovascular disease worldwide. We report genetic association of blood pressure (systolic, diastolic, pulse pressure) among UK Biobank participants of European ancestry with independent replication in other cohorts, and robust…
Genome-wide association study of major recurrent depression in the U.K. population.
OBJECTIVE: Studies of major depression in twins and families have shown moderate to high heritability, but extensive molecular studies have failed to identify susceptibility genes convincingly. To detect genetic variants contributing to major depression, the authors performed a genome-wide…
Socioeconomic indicators in epidemiologic research: A practical example from the LIFEPATH study.
BACKGROUND: Several social indicators have been used in epidemiological research to describe socioeconomic position (SEP) of people in societies. Among SEP indicators, those more frequently used are education, occupational class and income. Differences in the incidence of several health outcomes…
Impact of level of expertise versus the statistical tool on vertebral fracture assessment (VFA) readings in cohort studies.
The present study tested if the accuracy of the VFA reading reproducibility is more affected by the statistical tool used or by the reader's level of expertise in 50 VFA from a population-based cohort, the OsteoLaus study. We found that uniform kappa and instruction reading with the ISCD/IOF VFA…
Externalizing disorders and substance use: empirically derived subtypes in a population-based sample of adults.
PURPOSE: Attention-deficit/hyperactivity disorder (ADHD), conduct disorder (CD), and oppositional defiant disorder (ODD) are common externalizing disorders of childhood. The common effects of these disorders on substance abuse need further investigation. The current study investigated the joint…
Risk prediction of prevalent diabetes in a Swiss population using a weighted genetic score--the CoLaus Study.
AIMS/HYPOTHESIS: Several susceptibility genes for type 2 diabetes have been discovered recently. Individually, these genes increase the disease risk only minimally. The goals of the present study were to determine, at the population level, the risk of diabetes in individuals who carry risk alleles…
Multilayered genetic and omics dissection of mitochondrial activity in a mouse reference population.
The manner by which genotype and environment affect complex phenotypes is one of the fundamental questions in biology. In this study, we quantified the transcriptome--a subset of the metabolome--and, using targeted proteomics, quantified a subset of the liver proteome from 40 strains of the BXD…
The prevalence and management of cardiovascular risk factors in immigrant groups in Switzerland.
OBJECTIVES: To compare the prevalence and management of cardiovascular risk factors (CVRFs) between immigrant groups and Swiss nationals. METHODS: The Swiss Health Surveys (SHS, N = 49,245) and CoLaus study (N = 6,710) were used. Immigrant groups from France, Germany, Italy, Portugal, Spain, former…
Educational differences in dietary intake and compliance with dietary recommendations in a Swiss adult population.
OBJECTIVES: This study assessed the impact of education on diet and compliance with the national recommendations. METHODS: The study included 4338 adult participants of the Colaus study, a cross-sectional, population-based study conducted between 2009 and 2012 in Lausanne (Switzerland). Education…
Low emotion-oriented coping and informal help-seeking behaviour as major predictive factors for improvement in major depression at 5-year follow-up in the adult community.
PURPOSE: Given the broad range of biopsychosocial difficulties resulting from major depressive disorder (MDD), reliable evidence for predictors of improved mental health is essential, particularly from unbiased prospective community samples. Consequently, a broad spectrum of potential clinical and…
Seasonality of sodium and potassium consumption in Switzerland. Data from three cross-sectional, population-based studies.
BACKGROUND AND AIM: Blood pressure displays a seasonal pattern. Whether this pattern is related to high sodium and/or low potassium intakes has not been investigated. We assessed if sodium and potassium consumption present a seasonal pattern. We also simulated the impact of seasonality of sodium…
Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.
Physical activity (PA) may modify the genetic effects that give rise to increased risk of obesity. To identify adiposity loci whose effects are modified by PA, we performed genome-wide interaction meta-analyses of BMI and BMI-adjusted waist circumference and waist-hip ratio from up to 200,452 adults…
Plasma 1-deoxysphingolipids are early predictors of incident type 2 diabetes mellitus.
1-Deoxysphingolipids (1-deoxySLs) are atypical sphingolipids, which are formed in a side reaction during sphingolipid de-novo synthesis. Recently, we demonstrated that 1-deoxySLs are biomarkers for the prediction of T2DM in obese, non-diabetic patients. Here we investigated the relevance of…
Genome-wide association study of kidney function decline in individuals of European descent.
Genome-wide association studies (GWASs) have identified multiple loci associated with cross-sectional eGFR, but a systematic genetic analysis of kidney function decline over time is missing. Here we conducted a GWAS meta-analysis among 63,558 participants of European descent, initially from 16…
Tracing the associations between sex, the atypical and the combined atypical-melancholic depression subtypes: A path analysis.
BACKGROUND: Numerous studies have examined determinants leading to preponderance of women in major depressive disorder (MDD), which is particularly accentuated for the atypical depression subtype. It is thus of interest to explore the specific indirect effects influencing the association between sex…
A genetic risk score is differentially associated with migraine with and without aura.
Although a number of migraine-associated single-nucleotide polymorphisms (SNP) with small effect size have been identified, little is known about the additive impact of these variants on migraine risk, frequency and severity. We investigated to what extent a genetic risk score (GRS) based on…
1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.
HapMap imputed genome-wide association studies (GWAS) have revealed >50 loci at which common variants with minor allele frequency >5% are associated with kidney function. GWAS using more complete reference sets for imputation, such as those from The 1000 Genomes project, promise to identify novel…
Evaluating the Causal Relation of ApoA-IV with Disease-Related Traits - A Bidirectional Two-sample Mendelian Randomization Study.
Apolipoprotein A-IV (apoA-IV) has been observed to be associated with lipids, kidney function, adiposity- and diabetes-related parameters. To assess the causal relationship of apoA-IV with these phenotypes, we conducted bidirectional Mendelian randomization (MR) analyses using publicly available…
Anti-Apolipoprotein A-1 IgG Predict All-Cause Mortality and Are Associated with Fc Receptor-Like 3 Polymorphisms.
BACKGROUND: Autoantibodies against apolipoprotein A-1 (anti-apoA-1 IgG) have emerged as an independent biomarker for cardiovascular disease and mortality. However, their association with all-cause mortality in the community, as well as their genetic determinants, have not been studied. OBJECTIVE: To…
Personality, Cortisol, and Cognition in Non-demented Elderly Subjects: Results from a Population-Based Study.
Certain personality traits, in particular higher neuroticism, have been associated, on one hand, with elevated cortisol levels, and on the other hand, with poorer cognitive performance. At the same time, several studies highlighted the association between high cortisol and poor cognitive…
Social Phobia Is Associated with Delayed Onset of Chickenpox, Measles, and Mumps Infections.
OBJECTIVE: Evidence showing that infectious diseases in childhood play an important role in the etiopathogenesis of neurodevelopmental and other mental disorders is growing. The aim of this study was to explore the timing of common childhood diseases in early-onset anxiety disorders. MATERIALS AND…
Infectious, atopic and inflammatory diseases, childhood adversities and familial aggregation are independently associated with the risk for mental disorders: Results from a large Swiss epidemiological study.
AIM: To examine the associations between mental disorders and infectious, atopic, inflammatory diseases while adjusting for other risk factors. METHODS: We used data from PsyCoLaus, a large Swiss Population Cohort Study (n = 3720; age range 35-66). Lifetime diagnoses of mental disorders were grouped…
Determinants of change in polypharmacy status in Switzerland: the population-based CoLaus study.
OBJECTIVES: This study aimed to assess the prevalence, the change, and the determinants of change in polypharmacy in a population-based sample. METHODS: Baseline (2003-2006) and follow-up (2009-2012) data are from 4679 participants aged between 35 and 75 years (53.5% women, mean age 52.6 +/- 10.6…
Bad sleep? Don't blame the moon! A population-based study.
INTRODUCTION: The aim of this study was to evaluate if there is a significant effect of lunar phases on subjective and objective sleep variables in the general population. METHODS: A total of 2125 individuals (51.2% women, age 58.8 +/- 11.2 years) participating in a population-based cohort study…
The Benefit of Menopausal Hormone Therapy on Bone Density and Microarchitecture Persists After its Withdrawal.
CONTEXT: Menopausal hormone therapy (MHT) favorably affects bone mineral density (BMD). Whether MHT also affects bone microarchitecture, as assessed by trabecular bone score (TBS), has never been evaluated. OBJECTIVE: Our objective was to assess the effect of MHT on TBS and BMD before and after its…
Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.
Lean body mass, consisting mostly of skeletal muscle, is important for healthy aging. We performed a genome-wide association study for whole body (20 cohorts of European ancestry with n = 38,292) and appendicular (arms and legs) lean body mass (n = 28,330) measured using dual energy X-ray…
Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.
Elevated blood pressure is a major risk factor for cardiovascular disease and has a substantial genetic contribution. Genetic variation influencing blood pressure has the potential to identify new pharmacological targets for the treatment of hypertension. To discover additional novel blood pressure…
Rare Variants Association Analysis in Large-Scale Sequencing Studies at the Single Locus Level.
Genetic association analyses of rare variants in next-generation sequencing (NGS) studies are fundamentally challenging due to the presence of a very large number of candidate variants at extremely low minor allele frequencies. Recent developments often focus on pooling multiple variants to provide…
A genetic risk score is significantly associated with statin therapy response in the elderly population.
The ability of statins to strongly reduce low-density lipoprotein cholesterol (LDL-C) varies interindividually and is partially influenced by genetic variants. Based on a comprehensive analysis of 23 single nucleotide polymorphisms (SNPs) known to be associated with pharmacokinetics and dynamics of…
Personality, tobacco consumption, physical inactivity, obesity markers, and metabolic components as risk factors for cardiovascular disease in the general population.
The aim of this study was to investigate the relationship between personality traits, tobacco consumption, physical inactivity, obesity markers and metabolic components as cardiovascular risk factors (CVRFs). A total of 2543 participants from the general population (CoLaus|PsyCoLaus) had provided…
Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia.
Borderline personality disorder (BOR) is determined by environmental and genetic factors, and characterized by affective instability and impulsivity, diagnostic symptoms also observed in manic phases of bipolar disorder (BIP). Up to 20% of BIP patients show comorbidity with BOR. This report…
Sleep characteristics and cognitive impairment in the general population: The HypnoLaus study.
OBJECTIVE: To assess the association between sleep structure and cognitive impairment in the general population. METHODS: Data stemmed from 580 participants aged >65 years of the population-based CoLaus/PsyCoLaus study (Lausanne, Switzerland) who underwent complete sleep evaluation (HypnoLaus).…
Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness.
Male-pattern baldness (MPB) is a common and highly heritable trait characterized by androgen-dependent, progressive hair loss from the scalp. Here, we carry out the largest GWAS meta-analysis of MPB to date, comprising 10,846 early-onset cases and 11,672 controls from eight independent cohorts. We…
Detection of gene-gene interactions using multistage sparse and low-rank regression.
Finding an efficient and computationally feasible approach to deal with the curse of high-dimensionality is a daunting challenge faced by modern biological science. The problem becomes even more severe when the interactions are the research focus. To improve the performance of statistical analyses,…
Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.
Androgenetic alopecia (AGA) is a highly heritable condition and the most common form of hair loss in humans. Susceptibility loci have been described on the X chromosome and chromosome 20, but these loci explain a minority of its heritable variance. We conducted a large-scale meta-analysis of seven…
Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD.
Family studies suggest a genetic component to the etiology of chronic kidney disease (CKD) and end stage renal disease (ESRD). Previously, we identified 16 loci for eGFR in genome-wide association studies, but the associations of these single nucleotide polymorphisms (SNPs) for incident CKD or ESRD…
Association of grip strength with cardiovascular risk markers.
Background Mechanisms underlying the association between grip strength and cardiovascular mortality are poorly understood. We aimed to assess the association of grip strength with a panel of cardiovascular risk markers. Design The study was based on a cross-sectional analysis of 3468 adults aged…
Seasonality shows evidence for polygenic architecture and genetic correlation with schizophrenia and bipolar disorder.
OBJECTIVE: To test common genetic variants for association with seasonality (seasonal changes in mood and behavior) and to investigate whether there are shared genetic risk factors between psychiatric disorders and seasonality. METHOD: Genome-wide association studies (GWASs) were conducted in…
Persistent spatial clusters of high body mass index in a Swiss urban population as revealed by the 5-year GeoCoLaus longitudinal study.
OBJECTIVE: Body mass index (BMI) may cluster in space among adults and be spatially dependent. Whether and how BMI clusters evolve over time in a population is currently unknown. We aimed to determine the spatial dependence of BMI and its 5-year evolution in a Swiss general adult urban population,…
The PsyCoLaus study: methodology and characteristics of the sample of a population-based survey on psychiatric disorders and their association with genetic and cardiovascular risk factors.
BACKGROUND: The Psychiatric arm of the population-based CoLaus study (PsyCoLaus) is designed to: 1) establish the prevalence of threshold and subthreshold psychiatric syndromes in the 35 to 66 year-old population of the city of Lausanne (Switzerland); 2) test the validity of postulated definitions…
Prevalence of measured and reported multimorbidity in a representative sample of the Swiss population.
BACKGROUND: Little is known on the prevalence of multimorbidity (MM) in the general population. We aimed to assess the prevalence of MM using measured or self-reported data in the Swiss population. METHODS: Cross-sectional, population-based study conducted between 2003 and 2006 in the city of…
Association between variants of the leptin receptor gene (LEPR) and overweight: a systematic review and an analysis of the CoLaus study.
BACKGROUND: Three non-synonymous single nucleotide polymorphisms (Q223R, K109R and K656N) of the leptin receptor gene (LEPR) have been tested for association with obesity-related outcomes in multiple studies, showing inconclusive results. We performed a systematic review and meta-analysis on the…
Strong Impact of Smoking on Multimorbidity and Cardiovascular Risk Among Human Immunodeficiency Virus-Infected Individuals in Comparison With the General Population.
Background. Although acquired immune deficiency syndrome-associated morbidity has diminished due to excellent viral control, multimorbidity may be increasing among human immunodeficiency virus (HIV)-infected persons compared with the general population. Methods. We assessed the prevalence of…
Age and gender differences in the social patterning of cardiovascular risk factors in Switzerland: the CoLaus study.
OBJECTIVES: We examined the social distribution of a comprehensive range of cardiovascular risk factors (CVRF) in a Swiss population and assessed whether socioeconomic differences varied by age and gender. METHODS: Participants were 2960 men and 3343 women aged 35-75 years from a population-based…
Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
Metabolic traits are molecular phenotypes that can drive clinical phenotypes and may predict disease progression. Here, we report results from a metabolome- and genome-wide association study on (1)H-NMR urine metabolic profiles. The study was conducted within an untargeted approach, employing a…
Serum 25-hydroxyvitamin D level and kidney function decline in a Swiss general adult population.
BACKGROUND AND OBJECTIVES: Molecular evidence suggests that levels of vitamin D are associated with kidney function loss. Still, population-based studies are limited and few have considered the potential confounding effect of baseline kidney function. This study evaluated the association of serum…
Fast and Rigorous Computation of Gene and Pathway Scores from SNP-Based Summary Statistics.
Integrating single nucleotide polymorphism (SNP) p-values from genome-wide association studies (GWAS) across genes and pathways is a strategy to improve statistical power and gain biological insight. Here, we present Pascal (Pathway scoring algorithm), a powerful tool for computing gene and pathway…
Serum calcium levels are associated with novel cardiometabolic risk factors in the population-based CoLaus study.
BACKGROUND: Associations of serum calcium levels with the metabolic syndrome and other novel cardio-metabolic risk factors not classically included in the metabolic syndrome, such as those involved in oxidative stress, are largely unexplored. We analyzed the association of albumin-corrected serum…
Association of ABCB1 genetic variants with renal function in Africans and in Caucasians.
BACKGROUND: The P-glycoprotein, encoded by the ABCB1 gene, is expressed in human endothelial and mesangial cells, which contribute to control renal plasma flow and glomerular filtration rate. We investigated the association of ABCB1 variants with renal function in African and Caucasian subjects.…
A Population-Based Model to Consider the Effect of Seasonal Variation on Serum 25(OH)D and Vitamin D Status.
BACKGROUND: We elaborated a model that predicts the centiles of the 25(OH)D distribution taking into account seasonal variation. METHODS: Data from two Swiss population-based studies were used to generate (CoLaus) and validate (Bus Sante) the model. Serum 25(OH)D was measured by ultra high pressure…
Socio-demographic and behavioural determinants of weight gain in the Swiss population.
BACKGROUND: In Switzerland, socio-demographic and behavioural factors are associated with obesity, but no study ever assessed their impact on weight gain using prospective data. METHODS: Data from 4,469 participants (53.0% women), aged 35 to 75 years at baseline and followed for 5.5 years. Weight…
Genetic polymorphisms of the main transcription factors for adiponectin gene promoter in regulation of adiponectin levels: association analysis in three European cohorts.
Adiponectin serum concentrations are an important biomarker in cardiovascular epidemiology with heritability etimates of 30-70%. However, known genetic variants in the adiponectin gene locus (ADIPOQ) account for only 2%-8% of its variance. As transcription factors are thought to play an…
Associations of serum uric acid and SLC2A9 variant with depressive and anxiety disorders: a population-based study.
BACKGROUND: Limited information exists regarding the association between serum uric acid (SUA) and psychiatric disorders. We explored the relationship between SUA and subtypes of major depressive disorder (MDD) and specific anxiety disorders. Additionally, we examined the association of SLC2A9…
Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy.
Narcolepsy is a rare sleep disorder with the strongest human leukocyte antigen (HLA) association ever reported. Since the associated HLA-DRB1*1501-DQB1*0602 haplotype is common in the general population (15-25%), it has been suggested that it is almost necessary but not sufficient for developing…
Influence of MCHR2 and MCHR2-AS1 Genetic Polymorphisms on Body Mass Index in Psychiatric Patients and In Population-Based Subjects with Present or Past Atypical Depression.
Obesity development during psychotropic treatments represents a major health issue in psychiatry. Melanin-concentrating hormone receptor 2 (MCHR2) is a central receptor involved in energy homeostasis. MCHR2 shares its promoter region with MCHR2-AS1, a long antisense non-coding RNA. The aim of this…
Prevalence and factors associated with difficulty and intention to quit smoking in Switzerland.
BACKGROUND: Recent data indicate a slight decrease in the prevalence of smoking in Switzerland, but little is known regarding the intention and difficulty to quit smoking among current smokers. Hence, we aimed to quantify the difficulty and intention to quit smoking among current smokers in…
Impact of a cis-associated gene expression SNP on chromosome 20q11.22 on bipolar disorder susceptibility, hippocampal structure and cognitive performance.
BACKGROUND: Bipolar disorder is a highly heritable polygenic disorder. Recent enrichment analyses suggest that there may be true risk variants for bipolar disorder in the expression quantitative trait loci (eQTL) in the brain. AIMS: We sought to assess the impact of eQTL variants on bipolar disorder…
Associations of Urinary Uromodulin with Clinical Characteristics and Markers of Tubular Function in the General Population.
BACKGROUND AND OBJECTIVES: Allelic variants in UMOD, the gene coding for uromodulin, are associated with rare tubulointerstitial kidney disorders and risk of CKD and hypertension in the general population. The factors associated with uromodulin excretion in the normal population remain largely…
Smoking cessation and the incidence of pre-diabetes and type 2 diabetes: a cohort study.
AIMS: Smoking cessation has been suggested to increase the short-term risk of type 2 diabetes mellitus (T2DM). This study aimed at assessing the association between smoking cessation and incidence of T2DM and impaired fasting glucose (IFG). METHODS: Data from participants in the CoLaus study,…
Narcolepsy-Associated HLA Class I Alleles Implicate Cell-Mediated Cytotoxicity.
STUDY OBJECTIVES: Narcolepsy with cataplexy is tightly associated with the HLA class II allele DQB1*06:02. Evidence indicates a complex contribution of HLA class II genes to narcolepsy susceptibility with a recent independent association with HLA-DPB1. The cause of narcolepsy is supposed be an…
Association between parental history and genetic risk scores for coronary heart disease prediction: The population-based CoLaus study.
BACKGROUND AND AIMS: Parental history (PH) and genetic risk scores (GRSs) are separately associated with coronary heart disease (CHD), but evidence regarding their combined effects is lacking. We aimed to evaluate the joint associations and predictive ability of PH and GRSs for incident CHD.…
Sleep Characteristics in Early Stages of Chronic Kidney Disease in the HypnoLaus Cohort.
STUDY OBJECTIVES: To evaluate the association between early stages of chronic kidney disease (CKD) and sleep disordered breathing (SDB), restless legs syndrome (RLS), and subjective and objective sleep quality (SQ). METHODS: Cross-sectional analysis of a general population-based cohort (HypnoLaus).…
SIRT1 activates MAO-A in the brain to mediate anxiety and exploratory drive.
SIRT1 is a NAD(+)-dependent deacetylase that governs a number of genetic programs to cope with changes in the nutritional status of cells and organisms. Behavioral responses to food abundance are important for the survival of higher animals. Here we used mice with increased or decreased brain SIRT1…
Overlap between common genetic polymorphisms underpinning kidney traits and cardiovascular disease phenotypes: the CKDGen consortium.
BACKGROUND: Chronic kidney disease is associated with cardiovascular disease. We tested for evidence of a shared genetic basis to these traits. STUDY DESIGN: We conducted 2 targeted analyses. First, we examined whether known single-nucleotide polymorphisms (SNPs) underpinning kidney traits were…
The protective effect of the obesity-associated rs9939609 A variant in fat mass- and obesity-associated gene on depression.
Candidate gene and genome-wide association studies have not identified common variants, which are reliably associated with depression. The recent identification of obesity predisposing genes that are highly expressed in the brain raises the possibility of their genetic contribution to depression. As…
Serum uric acid and adiposity: deciphering causality using a bidirectional Mendelian randomization approach.
BACKGROUND: Although the relationship between serum uric acid (SUA) and adiposity is well established, the direction of the causality is still unclear in the presence of conflicting evidences. We used a bidirectional Mendelian randomization approach to explore the nature and direction of causality…
Determinants and burden of chronic kidney disease in the population-based CoLaus study: a cross-sectional analysis.
BACKGROUND: Chronic kidney disease (CKD) represents an increasing health burden. We present the population-based prevalence of CKD and compare the CKD Epidemiology collaboration (CKD-EPI) and modification of diet in renal disease (MDRD) equations to estimate the glomerular filtration rate, using the…
[OsteoLaus: prediction of osteoporotic fractures by clinical risk factors and DXA, IVA and TBS].
OsteoLaus is a cohort of 1400 women 50 to 80 years living in Lausanne, Switzerland. Clinical risk factors for osteoporosis, bone ultrasound of the heel, lumbar spine and hip bone mineral density (BMD), assessment of vertebral fracture by DXA, and microarchitecture evaluation by TBS (Trabecular Bone…
Lipoprotein distribution and biological variation of 24S- and 27-hydroxycholesterol in healthy volunteers.
24S- and 27-hydroxycholesterol are obligatory intermediates of cholesterol catabolism and play an important role in the maintenance of whole-body cholesterol homeostasis. Using an HPLC-MS method for oxysterol quantification, the distribution of esterified and unesterified oxysterols in lipoprotein…
Genetic variants linked to education predict longevity.
Educational attainment is associated with many health outcomes, including longevity. It is also known to be substantially heritable. Here, we used data from three large genetic epidemiology cohort studies (Generation Scotland, n = approximately 17,000; UK Biobank, n = approximately 115,000; and the…
Genes mirror geography within Europe.
Understanding the genetic structure of human populations is of fundamental interest to medical, forensic and anthropological sciences. Advances in high-throughput genotyping technology have markedly improved our understanding of global patterns of human genetic variation and suggest the potential to…
FGF21 signalling pathway and metabolic traits - genetic association analysis.
Fibroblast growth factor 21 (FGF21) is a novel master regulator of metabolic profile. The biological actions of FGF21 are elicited upon its klotho beta (KLB)-facilitated binding to FGF receptor 1 (FGFR1), FGFR2 and FGFR3. We hypothesised that common polymorphisms in the FGF21 signalling pathway may…
A multi-SNP locus-association method reveals a substantial fraction of the missing heritability.
There are many known examples of multiple semi-independent associations at individual loci; such associations might arise either because of true allelic heterogeneity or because of imperfect tagging of an unobserved causal variant. This phenomenon is of great importance in monogenic traits but has…
Genetic evidence for a role of adiponutrin in the metabolism of apolipoprotein B-containing lipoproteins.
Adiponutrin (PNPLA3) is a predominantly liver-expressed transmembrane protein with phospholipase activity that is regulated by fasting and feeding. Recent genome-wide association studies identified PNPLA3 to be associated with hepatic fat content and liver function, thus pointing to a possible…
Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.
Polysaccharide sidechains attached to proteins play important roles in cell-cell and receptor-ligand interactions. Variation in the carbohydrate component has been extensively studied for the iron transport protein transferrin, because serum levels of the transferrin isoforms asialotransferrin +…
Meta-analysis of genome-wide association data identifies a risk locus for major mood disorders on 3p21.1.
The major mood disorders, which include bipolar disorder and major depressive disorder (MDD), are considered heritable traits, although previous genetic association studies have had limited success in robustly identifying risk loci. We performed a meta-analysis of five case-control cohorts for major…
Prevalence and determinants of weight misperception in an urban Swiss population.
AIM: Weight misperception precludes effective management of pre-obesity and obesity, but little is known regarding its status in the Swiss population. Our study aimed to assess the prevalence and determinants of weight over- and underestimation in an adult urban Swiss population. METHODS:…
Association between anti-apolipoprotein A-1 antibodies and cardiovascular disease in the general population. Results from the CoLaus study.
We aimed to determine the association between autoantibodies against apolipoprotein A-1 (anti-apoA-1 IgG) and prevalent cardiovascular (CV) disease (CVD) as well as markers of CV risk in the general population. Cross-sectional data were obtained from 6649 subjects (age 52.6 +/- 10.7 years, 47.4 %…
Short-term increase in particulate matter blunts nocturnal blood pressure dipping and daytime urinary sodium excretion.
Short-term exposure to ambient particulate matter with aerodynamic diameters<10 microm were found to be positively associated with blood pressure. Yet, little information exists regarding the association between particles and circadian rhythm of blood pressure. Hence, we analyzed the association of…
Genetic Scores and Prediction of Atherosclerotic Cardiovascular Disease: Moving From Short-Term to Lifetime Risk Assessment.
Prevalence and determinants of periodic limb movements in the general population.
OBJECTIVE: Periodic limb movements during sleep (PLMS) are sleep phenomena characterized by periodic episodes of repetitive stereotyped limb movements. The aim of this study was to describe the prevalence and determinants of PLMS in a middle to older aged general population. METHODS: Data from 2,162…
[Chronic obstructive pulmonary disease and its links with cardiovascular risk factors].
Patients with chronic obstructive pulmonary disease (COPD) often also present with one or more cardiovascular risk factors, resulting not only in an increased mortality rate but also in a major impact on the health care system. Aside from common predisposing and environmental factors, the hypothesis…
High expectation in non-evidence-based smoking cessation interventions among smokers--the CoLaus study.
OBJECTIVE: To assess the preferred methods to quit smoking among current smokers. METHOD: Cross-sectional, population-based study conducted in Lausanne between 2003 and 2006 including 988 current smokers. Preference was assessed by questionnaire. Evidence-based (EB) methods were nicotine…
The association between inflammatory biomarkers and metabolically healthy obesity depends of the definition used.
BACKGROUND/OBJECTIVES: To assess the distribution of interleukin (IL)-1beta, IL-6, tumour necrosis factor (TNF)-alpha and C-reactive protein (CRP) according to the different definitions of metabolically healthy obesity (MHO). SUBJECTS/METHODS: A total of 881 obese (body mass index (BMI) > or =30…
Who is at low risk for cardiovascular disease? An assessment of different definitions.
BACKGROUND: There is little information regarding the determinants and trends of the prevalence of low cardiovascular risk factor (RF) profile in the general population. The aim of this study was to assess the prevalence and trends of low RF profile in the Swiss population according to different…
Prevalence and management of cardiovascular risk factors in Portuguese living in Portugal and Portuguese who migrated to Switzerland.
BACKGROUND: Information regarding the health status of migrants compared to subjects who remain in the country of origin is scarce. We compared the levels and management of the main cardiovascular risk factors between Portuguese living in Porto (Portugal) and Portuguese migrants living in Lausanne…
Dose-dependent positive association between cigarette smoking, abdominal obesity and body fat: cross-sectional data from a population-based survey.
BACKGROUND: Although smokers tend to have a lower body-mass index than non-smokers, smoking may favour abdominal body fat accumulation. To our knowledge, no population-based studies have assessed the relationship between smoking and body fat composition. We assessed the association between cigarette…
Inflammatory markers and blood pressure: sex differences and the effect of fat mass in the CoLaus Study.
Several studies have reported high levels of inflammatory biomarkers in hypertension, but data coming from the general population are sparse, and sex differences have been little explored. The CoLaus Study is a cross-sectional examination survey in a random sample of 6067 Caucasians aged 35-75 years…
Not all inflammatory markers are linked to kidney function: results from a population-based study.
BACKGROUND: Several studies have reported increased levels of inflammatory biomarkers in chronic kidney disease (CKD), but data from the general population are sparse. In this study, we assessed levels of the inflammatory markers C-reactive protein (hsCRP), tumor necrosis factor alpha (TNF-alpha),…
Association between inflammatory and obesity markers in a Swiss population-based sample (CoLaus Study).
OBJECTIVE: To assess the associations between obesity markers (BMI, waist circumference and %body fat) and inflammatory markers (interleukin-1beta (IL-1beta); interleukin-6 (IL-6); tumor necrosis factor-alpha (TNF-alpha) and high-sensitivity C-reactive protein (hs-CRP)). METHODS: Population sample…
Variant within the promoter region of the CHRNA3 gene associated with FTN dependence is not related to self-reported willingness to quit smoking.
INTRODUCTION: Common variation in the CHRNA5-CHRNA3-CHRNB4 gene region is robustly associated with smoking quantity. Conversely, the association between one of the most significant single nucleotide polymorphisms (SNPs; rs1051730 within the CHRNA3 gene) with perceived difficulty or willingness to…
Clinical, polysomnographic and genome-wide association analyses of narcolepsy with cataplexy: a European Narcolepsy Network study.
The aim of this study was to describe the clinical and PSG characteristics of narcolepsy with cataplexy and their genetic predisposition by using the retrospective patient database of the European Narcolepsy Network (EU-NN). We have analysed retrospective data of 1099 patients with narcolepsy…
[HypnoLaus sleep cohort study].
Normal sleep patterns and prevalence of sleep disorders in the general population are largely unknown. The aim of HypnoLaus cohort study is to record sleep and analyze sleep characteristics in a large population-based sample, which had undergone comprehensive genetic, somatic, and psychiatric…
Effects of particulate matter on inflammatory markers in the general adult population.
BACKGROUND: Particulate air pollution is associated with increased risk of cardiovascular disease and stroke. Although the precise mechanisms underlying this association are still unclear, the induction of systemic inflammation following particle inhalation represents a plausible mechanistic…
[Contribution of the CoLaus study to decipher the determinants of serum uric acid].
Asymptomatic hyperuricemia affects one in five adults in the general population and is associated with elevated cardiovascular risk. It is however not clear whether asymptomatic hyperuricemia is a cause or simply a marker of conditions associated with high cardiovascular risk. Sex, age, obesity,…
Circulating FABP4 is a prognostic biomarker in patients with acute coronary syndrome but not in asymptomatic individuals.
OBJECTIVE: Blood-borne biomarkers reflecting atherosclerotic plaque burden have great potential to improve clinical management of atherosclerotic coronary artery disease and acute coronary syndrome (ACS). APPROACH AND RESULTS: Using data integration from gene expression profiling of coronary thrombi…
Adipocytokines, hepatic and inflammatory biomarkers and incidence of type 2 diabetes. the CoLaus study.
CONTEXT: There is contradictory information regarding the prognostic importance of adipocytokines, hepatic and inflammatory biomarkers on the incidence of type 2 diabetes. The objective was to assess the prognostic relevance of adipocytokine and inflammatory markers (C-reactive protein - CRP;…
Levels and determinants of inflammatory biomarkers in a Swiss population-based sample (CoLaus study).
OBJECTIVE: to assess the levels and determinants of interleukin (IL)-1beta, IL-6, tumour necrosis factor (TNF)-alpha and C-reactive protein (CRP) in a healthy Caucasian population. METHODS: population sample of 2884 men and 3201 women aged 35 to 75. IL-1beta, IL-6 and TNF-alpha were assessed by a…
Strength of family history in predicting levels of blood pressure, plasma glucose and cholesterol.
OBJECTIVE: Limited information is available on the quantitative relationship between family history and the corresponding underlying traits. We analyzed these associations for blood pressure, fasting blood glucose, and cholesterol levels. METHODS: Data were obtained from 6,102 Caucasian participants…
Obesity markers and estimated 10-year fatal cardiovascular risk in Switzerland.
BACKGROUND AND AIM: There is an ongoing debate on which obesity marker better predicts cardiovascular disease (CVD). In this study, the relationships between obesity markers and high (>5%) 10-year risk of fatal CVD were assessed. METHODS AND RESULTS: A cross-sectional study was conducted including…
Population and economic impact of the 2013 ACC/AHA guidelines compared with European guidelines to prevent cardiovascular disease.
Physical activity and energy expenditure in rheumatoid arthritis patients and matched controls.
OBJECTIVES: To compare daily energy expenditure between RA patients and matched controls, and to explore the relationship between daily energy expenditure or sedentariness and disease-related scores. METHODS: One hundred and ten patients with RA and 440 age- and sex-matched controls were included in…
Estimating the risk of developing type 2 diabetes: a comparison of several risk scores: the Cohorte Lausannoise study.
OBJECTIVE: To compare in the Swiss population the results of several scores estimating the risk of developing type 2 diabetes. RESEARCH DESIGN AND METHODS: This was a single-center, cross-sectional study conducted between 2003 and 2006 in Lausanne, Switzerland. Overall, 3,251 women and 2,937 men,…
Prevalence, awareness and treatment of type 2 diabetes mellitus in Switzerland: the CoLaus study.
AIMS: To assess the prevalence, awareness and treatment levels of Type 2 diabetes in a Swiss city. METHODS: Population-based cross-sectional study of 6181 subjects (3246 women) aged 35-75 years living in Lausanne, Switzerland. Type 2 diabetes was defined as fasting plasma glucose >/= 7 mmol/l and/or…
Hyperhomocysteinemia is independently associated with albuminuria in the population-based CoLaus study.
BACKGROUND: Increased serum levels of homocysteine and uric acid have each been associated with cardiovascular risk. We analyzed whether homocysteine and uric acid were associated with glomerular filtration rate (GFR) and albuminuria independently of each other. We also investigated the association…
Prevalence and correlates of DSM-5 bipolar and related disorders and hyperthymic personality in the community.
BACKGROUND: To 1) establish the lifetime and 12-month prevalence of DSM-5 bipolar and related disorders including the new algorithmically defined conditions grouped within Other Specified Bipolar and Related Disorders (OSBARD) as well as hyperthymic personality in a randomly selected community…
Public health impact of statin prescribing strategies based on JUPITER.
OBJECTIVE: To evaluate the public health impact of statin prescribing strategies based on the Justification for the Use of Statins in Primary Prevention: an Intervention Trial Evaluating Rosuvastatin Study (JUPITER). METHODS: We studied 2268 adults aged 35-75 without cardiovascular disease in a…
Association between circulating cytokine levels, diabetes and insulin resistance in a population-based sample (CoLaus study).
OBJECTIVE: The associations between inflammation, diabetes and insulin resistance remain controversial. Hence, we assessed the associations between diabetes, insulin resistance (using HOMA-IR) and metabolic syndrome with the inflammatory markers high-sensitive C-reactive protein (hs-CRP),…
[Reducing dietary salt intake: an important public health strategy in Switzerland].
Current dietary salt (sodium chloride) intake largely exceeds physiological needs (about 1.5 g salt per day, or 550 mg sodium per day) in most countries (> 8 g salt per day). The main sources of dietar salt intake are breads, cheeses, products derived from meat and ready-to-eat meals. On average, a…
[Dysmetabolic hyperferritinemia: a new target for treatment?].
Dysmetabolic hyperferritinemia is currently the most frequent cause of elevated ferritin levels in the general population. Whether dysmetabolic hyperferritinemia is a cause or an effect of insulin resistance is still a matter of debate. Still, several findings have been well established: increased…
Sex-related and non-sex-related comorbidity subtypes of tic disorders: a latent class approach.
BACKGROUND AND PURPOSE: Recent evidence suggests that there may be more than one Gilles de la Tourette syndrome (GTS)/tic disorder phenotype. However, little is known about the common patterns of these GTS/tic disorder-related comorbidities. In addition, sex-specific phenomenological data of GTS/tic…
Clinical and course characteristics of depression and all-cause mortality: A prospective population-based study.
BACKGROUND: Given the large heterogeneity of depressive disorders (DD), studying depression characteristics according to clinical manifestations and course is a more promising approach than studying depression as a whole. The purpose of this study was to determine the association between clinical…
Five year trends in dyslipidaemia prevalence and management in Switzerland: the CoLaus study.
BACKGROUND AND AIMS: Data from prospective cohorts describing dyslipidaemia prevalence and treatment trends are lacking. Using data from the prospective CoLaus study, we aimed to examine changes in serum lipid levels, dyslipidaemia prevalence and management in a population-based sample of Swiss…
Scoring criteria for portable monitor recordings: a comparison of four hypopnoea definitions in a population-based cohort.
RATIONALE: Limited-channel portable monitors (PMs) are increasingly used as an alternative to polysomnography (PSG) for the diagnosis of obstructive sleep apnoea (OSA). However, recommendations for the scoring of PM recordings are still lacking. Pulse-wave amplitude (PWA) drops, considered as…
Sociodemographic and Behavioural Determinants of a Healthy Diet in Switzerland.
BACKGROUND/AIMS: The determinants of a healthy diet have not been studied in Switzerland. This study aimed at assessing the individual and behavioural factors associated with a healthy diet in a Swiss city. METHODS: Cross-sectional, population-based study conducted between 2009 and 2013 (n = 4,439,…
Angiotensin receptor blockers are not associated with reduced inflammatory markers in the general population.
OBJECTIVE: Angiotensin receptor blockers (ARBs) have been suggested to reduce inflammation in randomized controlled trials. We assessed the association between ARBs and inflammatory markers in a general population setting. METHODS: This is a population-based prospective study conducted in Lausanne,…
Age and gender variations of sleep in subjects without sleep disorders.
OBJECTIVE: Although sleep is a biomarker for general health and pathological conditions, its changes across age and gender are poorly understood. METHODS: Subjective evaluation of sleep was assessed by questionnaires in 5,064 subjects, and 2,966 were considered without sleep disorders. Objective…
Discrepancies between clinical needs and helpseeking behaviors in co-occurring posttraumatic stress and alcohol use disorders.
OBJECTIVE: The aim of the study was to compare subjects dually diagnosed with posttraumatic stress disorder (PTSD) and alcohol use disorder (AUD) to those with only one or none of these conditions regarding helpseeking needs and behaviors. METHOD: Data from a large community sample (N=3694) were…
Serum Vitamin D Concentrations Are Not Associated with Insulin Resistance in Swiss Adults.
BACKGROUND: Low vitamin D status has been associated with an increased risk of developing type 2 diabetes and insulin resistance (IR), although this has been recently questioned. OBJECTIVE: We examined the association between serum vitamin D metabolites and incident IR. METHODS: This was a…
Association of PCK1 with Body Mass Index and Other Metabolic Features in Patients With Psychotropic Treatments.
Weight gain is a major health problem among psychiatric populations. It implicates several receptors and hormones involved in energy balance and metabolism. Phosphoenolpyruvate carboxykinase 1 is a rate-controlling enzyme involved in gluconeogenesis, glyceroneogenesis and cataplerosis and has been…
Childhood adversities as specific contributors to the co-occurrence of posttraumatic stress and alcohol use disorders.
There is much evidence that alcohol use disorders (AUD) often co-occur with posttraumatic stress disorders (PTSD), and that the comorbid condition is associated with a more severe clinical profile than that of PTSD without AUD. However, little is known about the role of childhood adversities as…
Posttraumatic stress avoidance symptoms as mediators in the development of alcohol use disorders after exposure to childhood sexual abuse in a Swiss community sample.
This study examined the role of posttraumatic stress disorder (PTSD) symptoms of re-experience, avoidance, and hyperarousal in the relationship between different types of trauma and alcohol use disorders (AUD). We used data from 731 trauma-exposed individuals who participated in the first wave of…
Urotensin-II system in genetic control of blood pressure and renal function.
Urotensin-II controls ion/water homeostasis in fish and vascular tone in rodents. We hypothesised that common genetic variants in urotensin-II pathway genes are associated with human blood pressure or renal function. We performed family-based analysis of association between blood pressure,…
Lost in translation: dietary management of cardiovascular risk factors is seldom implemented.
OBJECTIVE: To assess dietary management of cardiovascular risk factors (CVRFs) in the general population. METHOD: Cross-sectional study conducted between 2009 and 2012 on 4811 participants (2567 women, 58+/-11years) living in Lausanne, Switzerland. RESULTS: Sixteen percent of participants diagnosed…
Aspirin and statin use and the subsequent development of depression in men and women: Results from a longitudinal population-based study.
OBJECTIVE: Low-grade chronic inflammation is one potential mechanism underlying the well-established association between major depressive disorder (MDD) and increased cardiovascular morbidity. Both aspirin and statins have anti-inflammatory properties, which may contribute to their preventive effect…
Antihypertensive drug treatment changes in the general population: the CoLaus study.
BACKGROUND: Changes in antihypertensive drug treatment are paramount in the adequate management of patients with hypertension, still, there is little information regarding changes in antihypertensive drug treatment in Switzerland. Our aim was to assess those changes and associated factors in a…
Short-term effects of particulate matters on pulse pressure in two general population studies.
OBJECTIVES: To explore the association of short-term exposure to particulate matter with aerodynamic diameters less than 10 mum (PM10) with pulse pressure, SBP, and DBP taking outdoor temperature into account in two large population-based studies in Switzerland. METHODS: We used data from the Bus…
Eligibility to treatment and economic effect of the implementation of the new U.S. or European Society of Hypertension/European Society of Cardiology hypertension guidelines.
OBJECTIVE: To evaluate the population and economic impact of implementing the new Joint National Committee (JNC) or European Society of Hypertension (ESH)/European Society of Cardiology (ESC) hypertension guidelines in the Swiss population. METHODS: Cross-sectional, population-based sample (6708…
DQB1 locus alone explains most of the risk and protection in narcolepsy with cataplexy in Europe.
STUDY OBJECTIVE: Prior research has identified five common genetic variants associated with narcolepsy with cataplexy in Caucasian patients. To replicate and/or extend these findings, we have tested HLA-DQB1, the previously identified 5 variants, and 10 other potential variants in a large European…
Evidence for chronic low-grade systemic inflammation in individuals with agoraphobia from a population-based prospective study.
BACKGROUND: Anxiety disorders have been linked to an increased risk of incident coronary heart disease in which inflammation plays a key pathogenic role. To date, no studies have looked at the association between proinflammatory markers and agoraphobia. METHODS: In a random Swiss population sample…
Association of socioeconomic status with sleep disturbances in the Swiss population-based CoLaus study.
OBJECTIVE: To examine the association of socioeconomic status (SES) with subjective and objective sleep disturbances and the role of socio-demographic, behavioural and psychological factors in explaining this association. METHODS: Analyses are based on 3391 participants (53% female, aged 40-81…
Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohort.
BACKGROUND: Genotypes obtained with commercial SNP arrays have been extensively used in many large case-control or population-based cohorts for SNP-based genome-wide association studies for a multitude of traits. Yet, these genotypes capture only a small fraction of the variance of the studied…
Cytokines and hs-CRP levels in individuals treated with low-dose aspirin for cardiovascular prevention: a population-based study (CoLaus Study).
Pro-inflammatory cytokines and high-sensitive C-reactive protein (hs-CRP) are associated with increased risk for cardiovascular disease. Low-dose aspirin for CV prevention is reported to have anti-inflammatory effects. The aim of this study was to determine the association between pro-inflammatory…
Association of socioeconomic status with inflammatory markers: a two cohort comparison.
OBJECTIVE: To assess the association between socioeconomic status (SES) and inflammatory markers using two different European population samples. METHODS: We used data from the CoLaus (N=6412, Lausanne, Switzerland) and EPIPorto (N=1205, Porto, Portugal) studies. Education and occupational position…
Trends in self-reported prevalence and management of hypertension, hypercholesterolemia and diabetes in Swiss adults, 1997-2007.
BACKGROUND: Switzerland has a low mortality rate from cardiovascular diseases, but little is known regarding prevalence and management of cardiovascular risk factors (CV RFs: hypertension, hypercholesterolemia and diabetes) in the general population. In this study, we assessed 10-year trends in…
Elevated serum uric acid is associated with high circulating inflammatory cytokines in the population-based Colaus study.
BACKGROUND: The relation of serum uric acid (SUA) with systemic inflammation has been little explored in humans and results have been inconsistent. We analyzed the association between SUA and circulating levels of interleukin-6 (IL-6), interleukin-1beta (IL-1beta), tumor necrosis factor- alpha…
Sequencing of Lp-PLA2-encoding PLA2G7 gene in 2000 Europeans reveals several rare loss-of-function mutations.
Elevated plasma levels of lipoprotein-associated phospholipase A(2) (Lp-PLA2) activity have been shown to be associated with increased risk of coronary heart disease and an inhibitor of this enzyme is under development for the treatment of that condition. A Val279Phe null allele in this gene, that…
Diabetes risk scores and death: predictability and practicability in two different populations.
The aim was to examine the capacity of commonly used type 2 diabetes mellitus (T2DM) risk scores to predict overall mortality. The US-based NHANES III (n = 3138; 982 deaths) and the Swiss-based CoLaus study (n = 3946; 191 deaths) were used. The predictive value of eight T2DM risk scores regarding…
Alcohol consumption and incidence of type 2 diabetes. Results from the CoLaus study.
BACKGROUND AND AIMS: Moderate alcohol consumption has been shown to decrease the risk of type 2 diabetes (T2DM), but whether this association is also valid for impaired fasting glucose (IFG) is less well known. We aimed at assessing the impact of alcohol consumption and of type of alcoholic beverage…
Depression with atypical features and increase in obesity, body mass index, waist circumference, and fat mass: a prospective, population-based study.
IMPORTANCE: Depression and obesity are 2 prevalent disorders that have been repeatedly shown to be associated. However, the mechanisms and temporal sequence underlying this association are poorly understood. OBJECTIVE: To determine whether the subtypes of major depressive disorder (MDD; melancholic,…
A genome-wide association study of neuroticism in a population-based sample.
Neuroticism is a moderately heritable personality trait considered to be a risk factor for developing major depression, anxiety disorders and dementia. We performed a genome-wide association study in 2,235 participants drawn from a population-based study of neuroticism, making this the largest…
Associations between mood, anxiety or substance use disorders and inflammatory markers after adjustment for multiple covariates in a population-based study.
Inflammation is one possible mechanism underlying the associations between mental disorders and cardiovascular diseases (CVD). However, studies on mental disorders and inflammation have yielded inconsistent results and the majority did not adjust for potential confounding factors. We examined the…
Prevalence of obesity and abdominal obesity in the Lausanne population.
BACKGROUND: Obesity can be defined using body mass index (BMI) or waist (abdominal obesity). Little information exists regarding its prevalence and determinants in Switzerland. Hence, we assessed the levels of obesity as defined by BMI or waist circumference in a Swiss population-based sample.…
Atypical depression and alcohol misuse are related to the cardiovascular risk in the general population.
OBJECTIVE: The aims of the present study were to assess the associations between mood, anxiety and substance use disorders, including their subtypes, and the prevalence of cardiovascular risk factors (CVRFs). METHOD: Thorough physical investigations, biological measures and standardized interview…
Clinical and biological determinants of kidney outcomes in a population-based cohort study.
BACKGROUND/AIMS: Prospective studies on factors associated with adverse kidney outcomes in European general populations are scant. Also, few studies consider the potential confounding effect of baseline kidney function. METHODS: We used baseline (2003-2006) and 5-year follow-up data of adults from…
Association of education and receiving social transfers with allostatic load in the Swiss population-based CoLaus study.
BACKGROUND: Allostatic load reflects cumulative exposure to stressors throughout lifetime and has been associated with several adverse health outcomes. It is hypothesized that people with low socioeconomic status (SES) are exposed to higher chronic stress and have therefore greater levels of…
Twenty-year differences in cardiovascular risk factor levels in a Swiss canton.
Factors associated with comorbidity patterns in full and partial PTSD: findings from the PsyCoLaus study.
Subtypes of comorbid conditions and their associated trauma and clinical characteristics in full and partial PTSD were examined. Data from 289 subjects from the general population that met criteria for full or partial PTSD were analyzed. Latent class analyses (LCA) were performed to derive…
Prevalence and characteristics of vitamin or dietary supplement users in Lausanne, Switzerland: the CoLaus study.
BACKGROUND AND OBJECTIVES: Vitamin+mineral supplement (VMS) and dietary supplement (DS) use is widespread in the general population, but the motivations for such use are poorly known. The prevalence and characteristics of VMS and DS users in Lausanne, Switzerland, were thus assessed. METHOD:…
Association between white-coat effect and blunted dipping of nocturnal blood pressure.
BACKGROUND: In this study, we assessed whether the white-coat effect (difference between office and daytime blood pressure (BP)) is associated with nondipping (absence of BP decrease at night). METHODS: Data were available in 371 individuals of African descent from 74 families selected from a…
Validation of 7 type 2 diabetes mellitus risk scores in a population-based cohort: CoLaus study.
Aspirin use for the primary prevention of coronary heart disease: a population-based study in Switzerland.
OBJECTIVE: To determine the patterns of aspirin use for the primary prevention of coronary heart disease (CHD). Aspirin for primary prevention has a more favorable risk/benefit profile among adults with high CHD risk than among low-risk adults. METHOD: We studied 5725 adults aged 35-75 without…
Caffeine intake and CYP1A2 variants associated with high caffeine intake protect non-smokers from hypertension.
The 15q24.1 locus, including CYP1A2, is associated with blood pressure (BP). The CYP1A2 rs762551 C allele is associated with lower CYP1A2 enzyme activity. CYP1A2 metabolizes caffeine and is induced by smoking. The association of caffeine consumption with hypertension remains controversial. We…
Alcohol drinking and cardiovascular risk in a population with high mean alcohol consumption.
Moderate alcohol consumption has been associated with lower coronary artery disease (CAD) risk. However, data on the CAD risk associated with high alcohol consumption are conflicting. The aim of this study was to examine the impact of heavier drinking on 10-year CAD risk in a population with high…
French version of the Family Attitude Scale: psychometric properties and relation of attitudes to the respondent's psychiatric status.
The Family Attitude Scale (FAS) is a self-report measure of critical or hostile attitudes and behaviors towards another family member, and demonstrates an ability to predict relapse in psychoses. Data are not currently available on a French version of the scale. The present study developed a French…
Influence of CRTC1 polymorphisms on body mass index and fat mass in psychiatric patients and the general adult population.
IMPORTANCE: There is a high prevalence of obesity in psychiatric patients, possibly leading to metabolic complications and reducing life expectancy. The CREB-regulated transcription coactivator 1 (CRTC1) gene is involved in energy balance and obesity in animal models, but its role in human obesity…
Association of serum homocysteine with major depressive disorder: results from a large population-based study.
BACKGROUND: Studies on the association between homocysteine levels and depression have shown conflicting results. To examine the association between serum total homocysteine (tHcy) levels and major depressive disorder (MDD) in a large community sample with an extended age range. METHODS: A total of…
Low compliance with dietary recommendations for food intake among adults.
BACKGROUND & AIMS: To assess the adherence to the national dietary recommendations and to identify factors contributing to dietary compliance in Switzerland. METHODS: Population-based cross-sectional study in Lausanne, Switzerland (CoLaus study), 2009-2012. Dietary intake was assessed using a…
Cardiovascular risk factors attributable to obesity and overweight in Switzerland.
BACKGROUND AND AIMS: Obesity increases the risk for cardiovascular risk factors (CVRFs), including hypertension, dyslipidaemia and type 2 diabetes. In this study, we assessed the burden of overweight and obesity on CVRFs in Switzerland, using Swiss-specific population attributable fractions (PAFs).…
Current genetic data do not improve the prediction of type 2 diabetes mellitus: the CoLaus study.
CONTEXT: Several genetic risk scores to identify asymptomatic subjects at high risk of developing type 2 diabetes mellitus (T2DM) have been proposed, but it is unclear whether they add extra information to risk scores based on clinical and biological data. OBJECTIVE: The objective of the study was…
Associations between alcohol consumption and selected cytokines in a Swiss population-based sample (CoLaus study).
OBJECTIVE: To assess the associations between alcohol consumption and cytokine levels (interleukin-1beta - IL-1beta; interleukin-6 - IL-6 and tumor necrosis factor-alpha - TNF-alpha) in a Caucasian population. METHODS: Population sample of 2884 men and 3201 women aged 35-75. Alcohol consumption was…
Distribution of plasma levels of adiponectin and leptin in an adult Caucasian population.
OBJECTIVES: Little is known regarding the distribution and the determinants of leptin and adiponectin levels in the general population. DESIGN: Cross-sectional study. PATIENTS: Women (3004) and men (2552) aged 35-74 living in Lausanne, Switzerland. MEASUREMENTS: Plasma levels of leptin and…
Prevalence of overweight and obesity among migrants in Switzerland: association with country of origin.
OBJECTIVE: Migrants tend to present higher overweight and obesity levels, but whether this relationship applies to all nationalities has seldom been studied. The present study aimed to assess the prevalence of overweight and obesity according to nationality in adults. DESIGN: Cross-sectional…
Psychiatric co-morbidities and cardiovascular risk factors in people with lifetime history of epilepsy of an urban community.
OBJECTIVES: Depression has been consistently reported in people with epilepsy. Several studies also suggest a higher burden of cardiovascular diseases. We therefore analysed psychosocial co-morbidity and cardiovascular risk factors in patients with a lifetime history of epilepsy in the PsyCoLaus…
[What CoLaus has brought to public health].
In order to fulfil their duties, Public health authorities have to rely on valid and recent data on the health status of populations. The CoLaus study helped to update our knowledge regarding the prevalence and management of the main cardiovascular risk factors in the Lausanne population. The…
[PsyCoLaus: mental disorders and cardiovascular diseases: spurious association?].
Cardio-vascular diseases (CVD), their well established risk factors (CVRF) and mental disorders are common and co-occur more frequently than would be expected by chance. However, the mechanisms underlying this association are still poorly understood. The main study questions of PsyCoLaus, the…
[CoLaus: diabetes and dyslipidemia, there is always something new!].
Cardiovascular diseases remain the first cause of mortality in our country. They are associated with well known risk factors such as diabetes and dyslipidemia. Herein we summarize main results of the CoLaus study regarding, first the prevalence and characteristics of the treatment of these risk…
Use of a Mendelian randomization approach to assess the causal relation of gamma-Glutamyltransferase with blood pressure and serum insulin levels.
Elevated levels of gamma-glutamyltransferase (GGT) have been associated with elevated blood pressure (BP) and diabetes. However, the causality of these relations has not been addressed. The authors performed a cross-sectional analysis (2003-2006) among 4,360 participants from the population-based…
Association of statins with inflammatory cytokines: a population-based Colaus study.
PURPOSE: A pleiotropic effect of statins has been reported in numerous studies. However, the association between statin use and inflammatory cytokines is controversial. We examined the associations between statin use and C-reactive protein (CRP), tumour necrosis factor alpha (TNF-alpha),…
Novel method to estimate the phenotypic variation explained by genome-wide association studies reveals large fraction of the missing heritability.
Genome-wide association studies (GWAS) are conducted with the promise to discover novel genetic variants associated with diverse traits. For most traits, associated markers individually explain just a modest fraction of the phenotypic variation, but their number can well be in the hundreds. We…
Statins for cardiovascular prevention according to different strategies: a cost analysis.
BACKGROUND: Several studies have shown that treatment with HMG-CoA reductase inhibitors (statins) can reduce coronary heart disease (CHD) rates. However, the cost effectiveness of statin treatment in the primary prevention of CHD has not been fully established. OBJECTIVE: To estimate the costs of…
Genome-wide association study of recurrent major depressive disorder in two European case-control cohorts.
Major depressive disorder (MDD) is a highly prevalent disorder with substantial heritability. Heritability has been shown to be substantial and higher in the variant of MDD characterized by recurrent episodes of depression. Genetic studies have thus far failed to identify clear and consistent…
Prevalence, treatment and control of dyslipidaemia in Switzerland: still a long way to go.
BACKGROUND: There is little information regarding the prevalence and management of dyslipidaemia in Switzerland. DESIGN: Cross-sectional population-based study of 3238 women and 2846 men aged 35-75. METHODS: Dyslipidaemia prevalence, treatment and control were defined according to PROCAM guidelines…
Methods for testing association between uncertain genotypes and quantitative traits.
Interpretability and power of genome-wide association studies can be increased by imputing unobserved genotypes, using a reference panel of individuals genotyped at higher marker density. For many markers, genotypes cannot be imputed with complete certainty, and the uncertainty needs to be taken…
Normal weight obesity: relationship with lipids, glycaemic status, liver enzymes and inflammation.
BACKGROUND AND AIMS: Normal weight obesity (NWO) is defined as an excessive body fat associated with a normal body mass index (BMI) and has been associated with early inflammation, but its relationship with cardiovascular risk factors await investigation. METHODS AND RESULTS: Cross-sectional study…
[Association between alcohol consumption and cardiovascular risk factors: a narrative review].
Moderate alcohol consumption has been associated with lower coronary heart disease (CHD) risk. However, the impact of higher alcohol consumption on cardiovascular risk factors (CVRFs) is conflicting. We examined the association between alcohol consumption, CVRFs and the estimated 10-year CHD risk in…
[Statin prescription in primary prevention: which cardiovascular risk score should be used in Switzerland?].
Primary prevention of cardiovascular disease by physicians is achieved by management of individual risk factors. The eligibility for treatment with statins is based on both an estimate of the risk of developing cardiovascular disease and the LDL-cholesterol. Three risk scores are commonly used: the…
[Genetic and/or clinical scores to anticipate the onset of diabetes].
Diabetes represents an important health burden on our society: for example in Lausanne (Switzerland) 16% of the adult population have abnormal glucose homeostasis and 6% have diabetes, of which about a third is not aware. Some guidelines identify the "at risk" population for which screening seems…
Association between C-reactive protein and adiposity in women.
CONTEXT: The link between C-reactive protein (CRP) and adiposity deserves to be further explored, considering the controversial diabetogenic role of CRP. OBJECTIVE: We explored the potential causal role of CRP on measures of adiposity. DESIGN: We used a Mendelian randomization approach with the CRP…
Cardiovascular risk estimation and eligibility for statins in primary prevention comparing different strategies.
Recommendations for statin use for primary prevention of coronary heart disease (CHD) are based on estimation of the 10-year CHD risk. It is unclear which risk algorithm and guidelines should be used in European populations. Using data from a population-based study in Switzerland, we first assessed…
Predictive accuracy of original and recalibrated Framingham risk score in the Swiss population.
OBJECTIVE: To compare the predictive accuracy of the original and recalibrated Framingham risk function on current morbidity from coronary heart disease (CHD) and mortality data from the Swiss population. METHODS: Data from the CoLaus study, a cross-sectional, population-based study conducted…
[Family history: useful or futile?].
Family history (FH) represents an important tool in clinical practice that allows assessing an increased risk to develop certain diseases as it captures genetic and environmental factors within a family. FH was shown to be important for several conditions such as type 2 diabetes mellitus and…
Prevalence, awareness, treatment and control of high blood pressure in a Swiss city general population: the CoLaus study.
BACKGROUND: This study is aimed to assess the prevalence of awareness, treatment and control of high blood pressure (HBP) and associated factors in a Swiss city. DESIGN: Population-based cross-sectional study of 6182 participants (52.5% women) aged 35-75 years living in Lausanne, Switzerland.…
Pharmacological effects of lipid-lowering drugs recapitulate with a larger amplitude the phenotypic effects of common variants within their target genes.
BACKGROUND: A major expectation underlying the search for novel susceptibility genes for common diseases using genome-wide association studies (GWAS) is that these discoveries will lead to new drug targets. This claim has not been verified yet. Here, we tested the hypothesis that common single…
Predictive accuracy and usefulness of calibration of the ESC SCORE in Switzerland.
BACKGROUND: Prevention of cardiovascular disease (CVD) at the individual level should rely on the assessment of absolute risk using population-specific risk tables. OBJECTIVE: To compare the predictive accuracy of the original and the calibrated SCORE functions regarding 10-year cardiovascular risk…
Alpha-5/alpha-3 nicotinic receptor subunit alleles increase risk for heavy smoking.
Twin studies indicate that additive genetic effects explain most of the variance in nicotine dependence (ND), a construct emphasizing habitual heavy smoking despite adverse consequences, tolerance and withdrawal. To detect ND alleles, we assessed cigarettes per day (CPD) regularly smoked, in two…
Prevalence and characteristics of homeopathy users in a representative sample of the Lausanne population: CoLaus study.
[Health examination survey of the Lausanne population: first results of the CoLaus study].
Cardiovascular diseases (CVD) remain the main cause of morbidity and mortality in our society. CoLaus is a population-based health examination survey started in 2003 in Lausanne in order to assess: 1. Prevalence of cardiovascular risk factors, 2. New genetic determinants of cardiovascular risk…