Pleiotropy, epistasis and the genetic architecture of quantitative traits

TFC Mackay, RRH Anholt - Nature Reviews Genetics, 2024 - nature.com
Pleiotropy (whereby one genetic polymorphism affects multiple traits) and epistasis
(whereby non-linear interactions between genetic polymorphisms affect the same trait) are …

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 …

Common and rare variant associations with clonal haematopoiesis phenotypes

MD Kessler, A Damask, S O'Keeffe, N Banerjee, D Li… - Nature, 2022 - nature.com
Clonal haematopoiesis involves the expansion of certain blood cell lineages and has been
associated with ageing and adverse health outcomes,,,–. Here we use exome sequence …

Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy

K Kiryluk, E Sanchez-Rodriguez, XJ Zhou, F Zanoni… - Nature …, 2023 - nature.com
IgA nephropathy (IgAN) is a progressive form of kidney disease defined by glomerular
deposition of IgA. Here we performed a genome-wide association study of 10,146 kidney …

Large-scale genome-wide association study of coronary artery disease in genetically diverse populations

C Tcheandjieu, X Zhu, AT Hilliard, SL Clarke… - Nature medicine, 2022 - nature.com
We report a genome-wide association study (GWAS) of coronary artery disease (CAD)
incorporating nearly a quarter of a million cases, in which existing studies are integrated with …

A cross-population atlas of genetic associations for 220 human phenotypes

S Sakaue, M Kanai, Y Tanigawa, J Karjalainen… - Nature …, 2021 - nature.com
Current genome-wide association studies do not yet capture sufficient diversity in
populations and scope of phenotypes. To expand an atlas of genetic associations in non …

Polygenic prediction of preeclampsia and gestational hypertension

MC Honigberg, B Truong, RR Khan, B **ao, L Bhatta… - Nature medicine, 2023 - nature.com
Preeclampsia and gestational hypertension are common pregnancy complications
associated with adverse maternal and child outcomes. Current tools for prediction …

Sleep patterns and risk of chronic disease as measured by long-term monitoring with commercial wearable devices in the All of Us Research Program

NS Zheng, J Annis, H Master, L Han, K Gleichauf… - Nature Medicine, 2024 - nature.com
Poor sleep health is associated with increased all-cause mortality and incidence of many
chronic conditions. Previous studies have relied on cross-sectional and self-reported survey …

Genomics and phenomics of body mass index reveals a complex disease network

J Huang, JE Huffman, Y Huang, Í Do Valle… - Nature …, 2022 - nature.com
Elevated body mass index (BMI) is heritable and associated with many health conditions
that impact morbidity and mortality. The study of the genetic association of BMI across a …

Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis

M Vujkovic, JM Keaton, JA Lynch, DR Miller, J Zhou… - Nature …, 2020 - nature.com
We investigated type 2 diabetes (T2D) genetic susceptibility via multi-ancestry meta-analysis
of 228,499 cases and 1,178,783 controls in the Million Veteran Program (MVP), DIAMANTE …