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在不同的人群中,定向对身高和认知的主导地位
Peter K Joshi1, Tonu Esko2,3,4,5, Hannele Mattsson6,7
1Usher Institute for Population Health Sciences and Informatics, University of Edinburgh, Teviot Place, Edinburgh, EH8 9AG, Scotland.
Nature
|July 2, 2015
概括
增加 homozygosity,以 homozygosity 的运行来衡量,与身高,肺功能,认知能力和教育的较低值有关. 这种遗传效应在不同种群中是一致的,并表明人类进化中这些特征的积极选择.
科学领域:
- 人类遗传学 人类遗传学
- 进化生物学 进化生物学
- 定量特征分析 定量特征分析
背景情况:
- 同志性与罕见的门德尔学障碍和减少进化适应性有关.
- 共同的,遥远的父母关系对复杂特征的影响不太了解.
- 同性运行 (ROH) 提供了一种评估全基因组同性效应的方法.
研究的目的:
- 调查全基因组同卵性与16种与健康相关的定量特征之间的关联.
- 确定同胞性是否直接导致大型,多样化的人类群体的表型变异.
- 探索基于同卵性效应的人类特征上的进化选择压力.
主要方法:
- 在102个队列中使用了同卵性 (ROH) 分析,包括354,224个人.
- 检查了总结的ROH和16个定量特征之间的关联,包括身高,肺功能,认知能力和教育程度.
- 评估了不同大陆群体的效应大小和全基因组均性的不同水平.
主要成果:
- 在总结的ROH和四个复杂的特征之间发现了统计学上显著的关联:身高,强迫呼气肺体积,一般认知能力和教育程度.
- 同胞性增加与这四个特征的值下降有关,其效果大小与第一表亲的后代相当.
- 没有证据表明ROH对血压,LDL胆固醇或其他十种心脏代谢特征的影响.
结论:
- 全基因组均性直接导致复杂的人类特征的表型变异.
- 研究结果表明,积极的进化选择可以增加身高和认知功能.
- 晚期发作的复杂疾病的许多危险因素可能不在影响同卵性性的方向进化选择下.
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