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Article
Open AccessGenetic drivers of heterogeneity in type 2 diabetes pathophysiology
Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse pathophysiological processes1,2 and molecular mechanisms that are often specific to cell type3,4. Here, to characterize the genetic c...
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Article
Open AccessProteomic analysis of 92 circulating proteins and their effects in cardiometabolic diseases
Human plasma contains a wide variety of circulating proteins. These proteins can be important clinical biomarkers in disease and also possible drug targets. Large scale genomics studies of circulating proteins...
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Article
Open AccessIdentifying novel regulatory effects for clinically relevant genes through the study of the Greek population
Expression quantitative trait loci (eQTL) studies provide insights into regulatory mechanisms underlying disease risk. Expanding studies of gene regulation to underexplored populations and to medically relevan...
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Author Correction: The power of genetic diversity in genome-wide association studies of lipids
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Article
Open AccessImplicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis
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 understandi...
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Article
Open AccessDiscovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants
The discovery of genetic loci associated with complex diseases has outpaced the elucidation of mechanisms of disease pathogenesis. Here we conducted a genome-wide association study (GWAS) for coronary artery d...
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Article
Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation
We assembled an ancestrally diverse collection of genome-wide association studies (GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls (48.9% non-European descent) through the...
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Article
Open AccessInsights into the genetic architecture of haematological traits from deep phenoty** and whole-genome sequencing for two Mediterranean isolated populations
Haematological traits are linked to cardiovascular, metabolic, infectious and immune disorders, as well as cancer. Here, we examine the role of genetic variation in sha** haematological traits in two isolate...
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Article
Open AccessMap** the serum proteome to neurological diseases using whole genome sequencing
Despite the increasing global burden of neurological disorders, there is a lack of effective diagnostic and therapeutic biomarkers. Proteins are often dysregulated in disease and have a strong genetic componen...
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Article
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 use1. Despite advances in prevention and treat...
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Article
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 aggregate...
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Publisher Correction: Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals
A Correction to this paper has been published: https://doi.org/10.1038/s41588-021-00832-z.
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Article
Open AccessWhole-genome sequencing analysis of the cardiometabolic proteome
The human proteome is a crucial intermediate between complex diseases and their genetic and environmental components, and an important source of drug development targets and biomarkers. Here, we comprehensivel...
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Article
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals
Genetic studies of blood pressure (BP) to date have mainly analyzed common variants (minor allele frequency > 0.05). In a meta-analysis of up to ~1.3 million participants, we discovered 106 new BP-associated g...
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Mendelian randomization analysis does not support causal associations of birth weight with hypertension risk and blood pressure in adulthood
Epidemiology studies suggested that low birthweight was associated with a higher risk of hypertension in later life. However, little is known about the causality of such associations. In our study, we evaluate...
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Open AccessThe transferability of lipid loci across African, Asian and European cohorts
Most genome-wide association studies are based on samples of European descent. We assess whether the genetic determinants of blood lipids, a major cardiovascular risk factor, are shared across populations. Gen...
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Article
Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa
Characterized primarily by a low body-mass index, anorexia nervosa is a complex and serious illness1, affecting 0.9–4% of women and 0.3% of men2–4, with twin-based heritability estimates of 50–60%5. Mortality rat...
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Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Article
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 22...
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Article
Open AccessLow-frequency variation in TP53 has large effects on head circumference and intracranial volume
Cranial growth and development is a complex process which affects the closely related traits of head circumference (HC) and intracranial volume (ICV). The underlying genetic influences sha** these traits dur...
