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思考全基因组关联研究时代复杂特征的演化。

Thinking About the Evolution of Complex Traits in the Era of Genome-Wide Association Studies.

机构信息

Department of Biological Sciences, Columbia University, New York, NY 10027, USA; email:

Department of Systems Biology, Columbia University, New York, NY 10032, USA.

出版信息

Annu Rev Genomics Hum Genet. 2019 Aug 31;20:461-493. doi: 10.1146/annurev-genom-083115-022316. Epub 2019 Jul 5.

Abstract

Many traits of interest are highly heritable and genetically complex, meaning that much of the variation they exhibit arises from differences at numerous loci in the genome. Complex traits and their evolution have been studied for more than a century, but only in the last decade have genome-wide association studies (GWASs) in humans begun to reveal their genetic basis. Here, we bring these threads of research together to ask how findings from GWASs can further our understanding of the processes that give rise to heritable variation in complex traits and of the genetic basis of complex trait evolution in response to changing selection pressures (i.e., of polygenic adaptation). Conversely, we ask how evolutionary thinking helps us to interpret findings from GWASs and informs related efforts of practical importance.

摘要

许多感兴趣的特征具有高度的遗传性和遗传复杂性,这意味着它们表现出的大部分变异来自基因组中许多基因座的差异。复杂特征及其进化已经研究了一个多世纪,但直到最近十年,人类的全基因组关联研究(GWAS)才开始揭示其遗传基础。在这里,我们将这些研究线索结合起来,探讨 GWAS 的发现如何进一步帮助我们理解导致复杂特征遗传变异的过程,以及复杂特征进化对不断变化的选择压力(即多基因适应)的遗传基础。相反,我们还探讨了进化思维如何帮助我们解释 GWAS 的发现,并为相关的实际重要工作提供信息。

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