Population-specific causal disease effect sizes in functionally important regions impacted by selection

Huwenbo Shi; Steven Gazal; Masahiro Kanai; Evan M. Koch; Armin P. Schoech; Katherine M. Siewert; Samuel S. Kim; Yang Luo; Tiffany Amariuta; Hailiang Huang; Yukinori Okada; Soumya Raychaudhuri; Shamil R. Sunyaev; Alkes L. Price

doi:10.1038/s41467-021-21286-1

Nature Communications (Feb 2021)

Population-specific causal disease effect sizes in functionally important regions impacted by selection

Huwenbo Shi,
Steven Gazal,
Masahiro Kanai,
Evan M. Koch,
Armin P. Schoech,
Katherine M. Siewert,
Samuel S. Kim,
Yang Luo,
Tiffany Amariuta,
Hailiang Huang,
Yukinori Okada,
Soumya Raychaudhuri,
Shamil R. Sunyaev,
Alkes L. Price

Affiliations

Huwenbo Shi: Department of Epidemiology, Harvard T.H. Chan School of Public Health
Steven Gazal: Department of Epidemiology, Harvard T.H. Chan School of Public Health
Masahiro Kanai: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard
Evan M. Koch: Division of Genetics, Brigham and Women’s Hospital, Harvard Medical School
Armin P. Schoech: Department of Epidemiology, Harvard T.H. Chan School of Public Health
Katherine M. Siewert: Department of Epidemiology, Harvard T.H. Chan School of Public Health
Samuel S. Kim: Department of Epidemiology, Harvard T.H. Chan School of Public Health
Yang Luo: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard
Tiffany Amariuta: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard
Hailiang Huang: Analytic and Translational Genetics Unit, Massachusetts General Hospital
Yukinori Okada: Department of Statistical Genetics, Osaka University Graduate School of Medicine
Soumya Raychaudhuri: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard
Shamil R. Sunyaev: Division of Genetics, Brigham and Women’s Hospital, Harvard Medical School
Alkes L. Price: Department of Epidemiology, Harvard T.H. Chan School of Public Health

DOI: https://doi.org/10.1038/s41467-021-21286-1
Journal volume & issue: Vol. 12, no. 1
pp. 1 – 15

Abstract

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Trans-ethnic genetic correlation is significantly less than 1 for many diseases. Here, the authors stratify this correlation by genomic annotations, finding that loci whose causal disease effect sizes differ between ethnicities are likely impacted by selection, particularly positive selection.

Published in Nature Communications

ISSN: 2041-1723 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science
Website: https://www.nature.com/ncomms/

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