870种人类多基因性状的选择压力格局

A selection pressure landscape for 870 human polygenic traits.

作者信息

Song Weichen, Shi Yueqi, Wang Weidi, Pan Weihao, Qian Wei, Yu Shunying, Zhao Min, Lin Guan Ning

机构信息

Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, School of Biomedical Engineering, Shanghai Jiao Tong University, Shanghai, China.

Shanghai Key Laboratory of Psychotic Disorders, Shanghai, China.

出版信息

Nat Hum Behav. 2021 Dec;5(12):1731-1743. doi: 10.1038/s41562-021-01231-4. Epub 2021 Nov 15.

Abstract

Characterizing the natural selection of complex traits is important for understanding human evolution and both biological and pathological mechanisms. We leveraged genome-wide summary statistics for 870 polygenic traits and attempted to quantify signals of selection on traits of different forms in European ancestry across four periods in human history and evolution. We found that 88% of these traits underwent polygenic change in the past 2,000-3,000 years. Recent selection was associated with ancient selection signals in the same trait. Traits related to pigmentation, body measurement and nutritional intake exhibited strong selection signals across different time scales. Our findings are limited by our use of exclusively European data and the use of genome-wide association study data, which identify associations between genetic variants and phenotypes that may not be causal. In sum, we provide an overview of signals of selection on human polygenic traits and their characteristics across human evolution, based on a European subset of human genetic diversity. These findings could serve as a foundation for further populational and medical genetic studies.

摘要

表征复杂性状的自然选择对于理解人类进化以及生物学和病理学机制至关重要。我们利用了870个多基因性状的全基因组汇总统计数据,并试图量化人类历史和进化四个时期中欧洲血统不同形式性状的选择信号。我们发现,在过去2000至3000年中,这些性状的88%经历了多基因变化。近期选择与同一性状的古代选择信号相关。与色素沉着、身体测量和营养摄入相关的性状在不同时间尺度上表现出强烈的选择信号。我们的研究结果受到仅使用欧洲数据以及使用全基因组关联研究数据的限制,这些数据识别出的基因变异与表型之间的关联可能并非因果关系。总之,基于人类遗传多样性的欧洲子集,我们概述了人类多基因性状的选择信号及其在人类进化过程中的特征。这些发现可为进一步的群体和医学遗传学研究奠定基础。

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