Solar energy, which is essential for the origin and evolution of all life forms on Earth, can be objectively recorded through attributes such as climatic ambient temperature (CAT), ultraviolet radiation (UVR), and sunlight duration (SD). These attributes have specific geographical variations and may cause different adaptation traits. However, the adaptation profile of each attribute and the selective role of solar energy as a whole during human evolution remain elusive. Here, we performed a genome-wide adaptation study with respect to CAT, UVR, and SD using the Human Genome Diversity Project-Centre Etude Polymorphism Humain (HGDP-CEPH) panel data. We singled out CAT as the most important driving force with the highest number of adaptive loci (6 SNPs at the genome-wide 1 × 10?7 level; 401 at the suggestive 1 × 10?5 level). Five of the six genome-wide significant adaptation SNPs were successfully replicated in an independent Chinese population (N = 1395). The corresponding 316 CAT adaptation genes were mostly involved in development and immunity. In addition, 265 (84%) genes were related to at least one genome-wide association study (GWAS)-mapped human trait, being significantly enriched in anthropometric loci such as those associated with body mass index (χ2; P < 0.005), immunity, metabolic syndrome, and cancer (χ2; P < 0.05). For these adaptive SNPs, balancing selection was evident in Euro-Asians, whereas obvious positive and/or purifying selection was observed in Africans. Taken together, our study indicates that CAT is the most important attribute of solar energy that has driven genetic adaptation in development and immunity among global human populations. It also supports the non-neutral hypothesis for the origin of disease-predisposition alleles in common diseases.
对地球生命的起源与进化至关重要的太阳能,可通过气温(CAT)、紫外辐射(UVR)和日照时长(SD)这三个主要属性进行衡量。在不同地域,这三者呈现出不同的组合方式并可能导致不同的生物适应特征。目前,人类群体对以这三种属性为代表的太阳能的适应模式,尤其是对每一属性的适应特征,尚未被完全阐释清楚。在本研究中,我们通过全基因组适应性分析,筛选了法国人类多样性研究中心的人类基因组多样性计划(HGDP-CEPH)数据库中可能受到气温、紫外辐射和日照时长选择的单核苷酸多态性(SNP)。我们发现与气温显著相关的位点最多(基因组1×10-7水平有6个SNP,达到1×10-5水平有401个SNP),提示气温可能是三种属性中起主要作用的因素。在这6个全基因组水平显著的气温信号中,5个在独立的中国人群(N = 1395)中得到验证。此外,401个SNP归属的316个气温相关基因主要与发育和免疫相关。其中,265个基因(84%)与至少一个全基因组关联研究(GWAS)相关的人类特征相关,并在人体测量学指标如体质指数BMI、免疫、代谢综合征和肿瘤等类别显著富集。总体上,这些气温适应信号在欧亚人群显示出平衡选择,在非洲则显示为净化选择。综上所述,本研究提示气温可能在太阳能对全球人群的发育和免疫功能的选择作用中起了最主要的作用。同时,研究结果也支持常见复杂疾病的易感基因的非中性起源假说。
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Ambient Temperature is A Strong Selective Factor Influencing Human Development and Immunity
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