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将人口历史整合到不同人群基因研究中的机遇与挑战:以夏威夷原住民为例的激励性案例

The Opportunities and Challenges of Integrating Population Histories Into Genetic Studies for Diverse Populations: A Motivating Example From Native Hawaiians.

作者信息

Chiang Charleston W K

机构信息

Department of Population and Public Health Sciences, Center for Genetic Epidemiology, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States.

Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, United States.

出版信息

Front Genet. 2021 Sep 27;12:643883. doi: 10.3389/fgene.2021.643883. eCollection 2021.

Abstract

There is a well-recognized need to include diverse populations in genetic studies, but several obstacles continue to be prohibitive, including (but are not limited to) the difficulty of recruiting individuals from diverse populations in large numbers and the lack of representation in available genomic references. These obstacles notwithstanding, studying multiple diverse populations would provide informative, population-specific insights. Using Native Hawaiians as an example of an understudied population with a unique evolutionary history, I will argue that by developing key genomic resources and integrating evolutionary thinking into genetic epidemiology, we will have the opportunity to efficiently advance our knowledge of the genetic risk factors, ameliorate health disparity, and improve healthcare in this underserved population.

摘要

人们普遍认识到在基因研究中纳入多样化人群的必要性,但仍有几个障碍令人望而却步,包括(但不限于)从多样化人群中大量招募个体的困难以及现有基因组参考中缺乏代表性。尽管存在这些障碍,但研究多个多样化人群将提供有价值的、针对特定人群的见解。以夏威夷原住民这个研究较少且有着独特进化历史的人群为例,我将论证,通过开发关键的基因组资源并将进化思维融入遗传流行病学,我们将有机会有效地增进对遗传风险因素的了解,改善健康差距,并改善这个服务不足人群的医疗保健状况。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/97d4/8503554/21a09f7fa951/fgene-12-643883-g001.jpg

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