据介绍，对人类基因研究的合理批评之一是来自不同人群的参与者代表性不足。必须大规模解决缺乏包容性的问题，以确定致病因素并了解健康差异的遗传原因。
研究人员展示了退伍军人事务百万老兵计划635969名参与者的2068个特征的全基因组关联，这是一项对美国不同退伍军人的纵向研究。系统分析显示13672个基因组风险位点；1608年仅在包括非欧洲人群后才具有显著性。精细作图确定了613个性状中6318个信号的因果变异。三分之一（n=2069）的参与者来自非欧洲人群。这揭示了不同人群之间广泛相似的遗传结构，突出了从代表性不足的群体中获得的遗传见解，并展示了广泛的遗传关联图谱。
附：英文原文
Title: Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program
Author: Anurag Verma, Jennifer E. Huffman, Alex Rodriguez, Mitchell Conery, Molei Liu, Yuk-Lam Ho, Youngdae Kim, David A. Heise, Lindsay Guare, Vidul Ayakulangara Panickan, Helene Garcon, Franciel Linares, Lauren Costa, Ian Goethert, Ryan Tipton, Jacqueline Honerlaw, Laura Davies, Stacey Whitbourne, Jeremy Cohen, Daniel C. Posner, Rahul Sangar, Michael Murray, Xuan Wang, Daniel R. Dochtermann, Poornima Devineni, Yunling Shi, Tarak Nath Nandi, Themistocles L. Assimes, Charles A. Brunette, Robert J. Carroll, Royce Clifford, Scott Duvall, Joel Gelernter, Adriana Hung, Sudha K. Iyengar, Jacob Joseph, Rachel Kember, Henry Kranzler, Colleen M. Kripke, Daniel Levey, Shiuh-Wen Luoh, Victoria C. Merritt, Cassie Overstreet, Joseph D. Deak, Struan F. A. Grant, Renato Polimanti, Panos Roussos, Gabrielle Shakt, Yan V. Sun, Noah Tsao, Sanan Venkatesh, Georgios Voloudakis, Amy Justice, Edmon Begoli, Rachel Ramoni, Georgia Tourassi, Saiju Pyarajan, Philip Tsao, Christopher J. ODonnell, Sumitra Muralidhar, Jennifer Moser, Juan P. Casas, Alexander G. Bick, Wei Zhou, Tianxi Cai, Benjamin F. Voight, Kelly Cho, J. Michael Gaziano, Ravi K. Madduri, Scott Damrauer, Katherine P. Liao
Issue&Volume: 2024-07-19
Abstract: One of the justifiable criticisms of human genetic studies is the underrepresentation of participants from diverse populations. Lack of inclusion must be addressed at-scale to identify causal disease factors and understand the genetic causes of health disparities. We present genome-wide associations for 2068 traits from 635,969 participants in the Department of Veterans Affairs Million Veteran Program, a longitudinal study of diverse United States Veterans. Systematic analysis revealed 13,672 genomic risk loci; 1608 were only significant after including non-European populations. Fine-mapping identified causal variants at 6318 signals across 613 traits. One-third (n = 2069) were identified in participants from non-European populations. This reveals a broadly similar genetic architecture across populations, highlights genetic insights gained from underrepresented groups, and presents an extensive atlas of genetic associations.
DOI: adj1182
Source: https://www.science.org/doi/10.1126/science.adj1182