最近的积极选择特征揭示了汉族中国人群的表型演变
Huaxia Luo1, Peng Zhang2, Wanyu Zhang2
1Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China; Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
Science bulletin
|September 4, 2023
概括
研究人员在汉语中最近的选择中确定了24个基因位点,揭示了免疫力和酒精代谢的适应性. 他们发现了免疫基因变异与自身免疫性疾病风险之间的联系,并发现了多基因适应在血压等复杂特征中的证据.
科学领域:
- 人类进化遗传学 人类进化遗传学
- 人口基因组学 人口基因组学
- 分子人类学分子人类学
背景情况:
- 了解自然选择特征对于破译人类进化和疾病机制至关重要.
- 之前的研究已经确定了各种人群中的选择信号,但需要对汉族人群进行全面分析.
研究的目的:
- 在汉族中国人群中最近的自然选择下识别遗传位置.
- 调查已识别的选择信号和表型特征之间的关系,包括免疫力,酒精代谢和复杂特征.
- 开发一个数据库,用于整合和显示特定人口的选择信号.
主要方法:
- 从3946名汉族人群的全基因组测序数据中分析了罕见的单子.
- 鉴定了24个表现出最近积极选择特征的基因位点.
- 与现有数据库 (TOPMed,WestLake Biobank) 进行交叉引用,并探索与免疫,代谢和复杂特征的关联.
主要成果:
- 在最近的选择中确定了24个基因位点,包括与免疫相关的 (MHC,IGH),酒精代谢 (ADH1B,ALDH2,ALDH3B2) 和嗅觉基因 (OR4C16).
- IGH集群变种 (rs117518546) 在增强免疫反应和增加全身性红斑狼 (SLE) 风险方面发挥了双重作用.
- 在复杂的特征中存在多基因适应的证据,一致的信号有利于降低血压.
结论:
- 最近的自然选择形成了与汉族中国人免疫力和酒精代谢相关的关键基因.
- 特定的遗传变异可以产生类效应,影响有益的适应和疾病易感性.
- 开发的RePoS数据库为跨多种人群的比较基因组学和进化研究提供了宝贵的资源.
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