15 years of GWAS discovery: realizing the promise
It has been 15 years since the advent of the genome-wide association study (GWAS) era.
Here, we review how this experimental design has realized its promise by facilitating an …
Here, we review how this experimental design has realized its promise by facilitating an …
A brief history of human disease genetics
M Claussnitzer, JH Cho, R Collins, NJ Cox… - Nature, 2020 - nature.com
A primary goal of human genetics is to identify DNA sequence variants that influence
biomedical traits, particularly those related to the onset and progression of human disease …
biomedical traits, particularly those related to the onset and progression of human disease …
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 …
(GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls …
Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps
We expanded GWAS discovery for type 2 diabetes (T2D) by combining data from 898,130
European-descent individuals (9% cases), after imputation to high-density reference panels …
European-descent individuals (9% cases), after imputation to high-density reference panels …
Comprehensive genetic study of the insulin resistance marker TG: HDL-C in the UK Biobank
Insulin resistance (IR) is a well-established risk factor for metabolic disease. The ratio of
triglycerides to high-density lipoprotein cholesterol (TG: HDL-C) is a surrogate marker of IR …
triglycerides to high-density lipoprotein cholesterol (TG: HDL-C) is a surrogate marker of IR …
Metabolically healthy obesity: from epidemiology and mechanisms to clinical implications
MB Schulze, N Stefan - Nature Reviews Endocrinology, 2024 - nature.com
The concept of metabolic health, particularly in obesity, has attracted a lot of attention in the
scientific community, and is being increasingly used to determine the risk of cardiovascular …
scientific community, and is being increasingly used to determine the risk of cardiovascular …
[HTML][HTML] Trans effects on gene expression can drive omnigenic inheritance
Early genome-wide association studies (GWASs) led to the surprising discovery that, for
typical complex traits, most of the heritability is due to huge numbers of common variants …
typical complex traits, most of the heritability is due to huge numbers of common variants …
Genetic risk scores for diabetes diagnosis and precision medicine
During the last decade, there have been substantial advances in the identification and
characterization of DNA sequence variants associated with individual predisposition to type …
characterization of DNA sequence variants associated with individual predisposition to type …
Genetics of sexually dimorphic adipose distribution in humans
GT Hansen, DR Sobreira, ZT Weber, AG Thornburg… - Nature …, 2023 - nature.com
Obesity-associated morbidity is exacerbated by abdominal obesity, which can be measured
as the waist-to-hip ratio adjusted for the body mass index (WHRadjBMI). Here we identify …
as the waist-to-hip ratio adjusted for the body mass index (WHRadjBMI). Here we identify …
Genome-wide discovery of genetic loci that uncouple excess adiposity from its comorbidities
Obesity is a major risk factor for cardiometabolic diseases. Nevertheless, a substantial
proportion of individuals with obesity do not suffer cardiometabolic comorbidities. The …
proportion of individuals with obesity do not suffer cardiometabolic comorbidities. The …