25 Result(s)
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Article
George Dedoussis
Science, Humanities and Social Sciences, multidisciplinary
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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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Author Correction: The power of genetic diversity in genome-wide association studies of lipids
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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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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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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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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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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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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...
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Open AccessAuthor Correction: Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits
The original version of this Article contained an error in Fig. 2. In panel a, the two legend items “rare” and “common” were inadvertently swapped. This has been corrected in both the PDF and HTML versions of ...
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Open AccessCohort-wide deep whole genome sequencing and the allelic architecture of complex traits
The role of rare variants in complex traits remains uncharted. Here, we conduct deep whole genome sequencing of 1457 individuals from an isolated population, and test for rare variant burdens across six cardio...
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Open AccessEnrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations
The genetic features of isolated populations can boost power in complex-trait association studies, and an in-depth understanding of how their genetic variation has been shaped by their demographic history can ...
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Open AccessWhole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits
Next-generation association studies can be empowered by sequence-based imputation and by studying founder populations. Here we report ∼9.5 million variants from whole-genome sequencing (WGS) of a Cretan-isolat...
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Open AccessGenome-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 tra...
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Open AccessMeta-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, c...
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Rare and low-frequency coding variants alter human adult height
Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding va...
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Open AccessA 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 repres...
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Open AccessNo Association of Coronary Artery Disease with X-Chromosomal Variants in Comprehensive International Meta-Analysis
In recent years, genome-wide association studies have identified 58 independent risk loci for coronary artery disease (CAD) on the autosome. However, due to the sex-specific data structure of the X chromosome,...
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Directional dominance on stature and cognition in diverse human populations
An analysis of 16 health-related quantitative traits in approximately 350,000 individuals reveals statistically significant associations between genome-wide homozygosity and four complex traits (height, lung f...
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Erratum: A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans
Nature Communications 5: Article number: 4871 (2015); Published 16 September 2014; Updated 12 May 2015 During the production of this Article, errors were introduced in the frequencies of the variants rs964184-...
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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 distr...
