Human adaptations to diet, subsistence, and ecoregion are due to subtle shifts in allele frequency
Human adaptations to diet, subsistence, and ecoregion are due to subtle shifts in allele frequency
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DOI：
10.1073/pnas.0914625107
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发表时间：
2010-05-11
影响因子：
11.1
通讯作者：
Di Rienzo, Anna
中科院分区：
文献类型：
--
作者：
Hancock, Angela M.;Witonsky, David B.;Di Rienzo, Anna
人类使用各种各样的生存策略来利用非常广泛的生态区域和饮食成分。人类环境的这些方面在人类进化过程中发生了巨大变化，产生了新的选择压力。为了了解人类适应的遗传基础，我们将联合收割机群体遗传学数据与生态信息相结合，以检测响应新选择压力而频率增加的变异。我们的方法检测SNP，这些SNP在不同人群中的等位基因频率与环境的特定方面存在一致性差异。基因，特别是非同义SNP是过度的那些最强烈的相关性与环境变量。这为生态区、饮食和生存方式的变化导致的选择提供了全基因组的证据。我们发现了与极地生态区、觅食以及富含根和块茎的饮食有关的特别强烈的信号。有趣的是，一些最强的信号与来自全基因组关联研究的能量代谢表型中涉及的信号重叠，包括影响葡萄糖水平和2型糖尿病易感性的SNP。此外，几个途径，包括淀粉和蔗糖代谢，丰富的强信号的适应饮食丰富的根和块茎，而信号与极地生态区的过度与能量代谢途径相关的基因。
Human populations use a variety of subsistence strategies to exploit an exceptionally broad range of ecoregions and dietary components. These aspects of human environments have changed dramatically during human evolution, giving rise to new selective pressures. To understand the genetic basis of human adaptations, we combine population genetics data with ecological information to detect variants that increased in frequency in response to new selective pressures. Our approach detects SNPs that show concordant differences in allele frequencies across populations with respect to specific aspects of the environment. Genic and especially nonsynonymous SNPs are overrepresented among those most strongly correlated with environmental variables. This provides genome-wide evidence for selection due to changes in ecoregion, diet, and subsistence. We find particularly strong signals associated with polar ecoregions, with foraging, and with a diet rich in roots and tubers. Interestingly, several of the strongest signals overlap with those implicated in energy metabolism phenotypes from genome-wide association studies, including SNPs influencing glucose levels and susceptibility to type 2 diabetes. Furthermore, several pathways, including those of starch and sucrose metabolism, are enriched for strong signals of adaptations to a diet rich in roots and tubers, whereas signals associated with polar ecoregions are overrepresented in genes associated with energy metabolism pathways.