15 years of GWAS discovery: realizing the promise

A Abdellaoui, L Yengo, KJH Verweij… - The American Journal of …, 2023 - cell.com
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 …

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 …

Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

A Mahajan, CN Spracklen, W Zhang, MCY Ng… - Nature …, 2022 - nature.com
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 …

Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

A Mahajan, D Taliun, M Thurner, NR Robertson… - Nature …, 2018 - nature.com
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 …

Comprehensive genetic study of the insulin resistance marker TG: HDL-C in the UK Biobank

A Oliveri, RJ Rebernick, A Kuppa, A Pant, Y Chen… - Nature …, 2024 - nature.com
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 …

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 …

[HTML][HTML] Trans effects on gene expression can drive omnigenic inheritance

X Liu, YI Li, JK Pritchard - Cell, 2019 - cell.com
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 …

Genetic risk scores for diabetes diagnosis and precision medicine

MS Udler, MI McCarthy, JC Florez… - Endocrine …, 2019 - academic.oup.com
During the last decade, there have been substantial advances in the identification and
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 …

Genome-wide discovery of genetic loci that uncouple excess adiposity from its comorbidities

LO Huang, A Rauch, E Mazzaferro, M Preuss… - Nature …, 2021 - nature.com
Obesity is a major risk factor for cardiometabolic diseases. Nevertheless, a substantial
proportion of individuals with obesity do not suffer cardiometabolic comorbidities. The …