State Key Laboratory of Genetic Resources and Evolution, Yunnan Laboratory of Molecular Biology of Domestic Animals, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China; Department of Biochemistry, Medical School of Ningbo University, Ningbo 315211, China.
State Key Laboratory of Genetic Resources and Evolution, Yunnan Laboratory of Molecular Biology of Domestic Animals, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China.
Genomics Proteomics Bioinformatics. 2020 Oct;18(5):489-500. doi: 10.1016/j.gpb.2019.11.009. Epub 2020 Aug 19.
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 level; 401 at the suggestive 1 × 10 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 (χ; P < 0.005), immunity, metabolic syndrome, and cancer (χ; 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.
太阳能对于地球上所有生命形式的起源和演化至关重要,可以通过气候环境温度 (CAT)、紫外线辐射 (UVR) 和阳光持续时间 (SD) 等属性进行客观记录。这些属性具有特定的地理变化,可能导致不同的适应特征。然而,每种属性的适应特征以及太阳能作为一个整体在人类进化中的选择作用仍然难以捉摸。在这里,我们使用人类基因组多样性计划-人类中心研究多态性 (HGDP-CEPH) 面板数据,针对 CAT、UVR 和 SD 进行了全基因组适应性研究。我们发现 CAT 是最重要的驱动力,具有最多的适应性基因座(基因组范围内 1×10 水平的 6 个 SNP;提示性 1×10 水平的 401 个 SNP)。六个全基因组显著适应性 SNP 中的五个在独立的中国人群中成功复制(N=1395)。相应的 316 个 CAT 适应基因主要参与发育和免疫。此外,265 个(84%)基因与至少一个全基因组关联研究 (GWAS) 映射的人类特征相关,这些基因在人体测量学基因座中显著富集,例如与体重指数 (χ; P<0.005)、免疫、代谢综合征和癌症 (χ; P<0.05) 相关的基因座。对于这些适应性 SNP,平衡选择在欧亚人中明显,而在非洲人中则观察到明显的阳性和/或纯化选择。综上所述,我们的研究表明,CAT 是太阳能最重要的属性,它在全球人类群体的发育和免疫方面驱动了遗传适应。它还支持常见疾病中疾病易感性等位基因起源的非中性假说。