美国弗吉尼亚联邦大学Roseann E. Peterson课题组阐述了遗传多样性人群的全基因组关联分析：机会、方法、缺陷和建议。 2019年10月10日的《细胞》在线发表了这项成果。

为了方便和促进多族裔和混合人群的研究，研究者概述了主要的方法学考虑因素，并重点介绍了机会，挑战，解决方案和需要发展的领域。 尽管研究者认为很难分析来自不同人群的遗传数据，但这在科学和伦理上都是必不可少的，并且拥有一个扩展的分析工具箱可以很好地做到这一点。

据介绍，全基因组关联分析（GWAS）主要关注欧洲裔人群，但重要的是，多样化的人群具有更好的代表性。研究参与者之间日益增加的多样性将增进我们对所有人群的遗传结构的了解，并确保遗传研究广泛适用性。

附：英文原文

Title: Genome-wide Association Studies in Ancestrally Diverse Populations: Opportunities, Methods, Pitfalls, and Recommendations

Author: Roseann E. Peterson, Karoline Kuchenbaecker, Raymond K. Walters, Chia-Yen Chen, Alice B. Popejoy, Sathish Periyasamy, Max Lam, Conrad Iyegbe, Rona J. Strawbridge, Leslie Brick, Caitlin E. Carey, Alicia R. Martin, Jacquelyn L. Meyers, Jinni Su, Junfang Chen, Alexis C. Edwards, Allan Kalungi, Nastassja Koen, Lerato Majara, Emanuel Schwarz, Jordan W. Smoller, Eli A. Stahl, Patrick F. Sullivan, Evangelos Vassos, Bryan Mowry, Miguel L. Prieto, Alfredo Cuellar-Barboza, Tim B. Bigdeli, Howard J. Edenberg, Hailiang Huang, Laramie E. Duncan

Issue&Volume: 10 October 2019

Abstract: 

Genome-wide association studies (GWASs) have focused primarily on populations of European descent, but it is essential that diverse populations become better represented. Increasing diversity among study participants will advance our understanding of genetic architecture in all populations and ensure that genetic research is broadly applicable. To facilitate and promote research in multi-ancestry and admixed cohorts, we outline key methodological considerations and highlight opportunities, challenges, solutions, and areas in need of development. Despite the perception that analyzing genetic data from diverse populations is difficult, it is scientifically and ethically imperative, and there is an expanding analytical toolbox to do it well.

DOI: 10.1016/j.cell.2019.08.051

Source: https://www.cell.com/cell/fulltext/S0092-8674(19)31002-5