Department of Genetics and Bioinformatics, Dasman Diabetes Institute, Kuwait City, Kuwait.
Department of Biological Sciences, State University of New York at Buffalo, Buffalo.
Genome Biol Evol. 2020 Mar 1;12(3):77-87. doi: 10.1093/gbe/evaa033.
Despite the extreme and varying environmental conditions prevalent in the Arabian Peninsula, it has experienced several waves of human migrations following the out-of-Africa diaspora. Eventually, the inhabitants of the peninsula region adapted to the hot and dry environment. The adaptation and natural selection that shaped the extant human populations of the Arabian Peninsula region have been scarcely studied. In an attempt to explore natural selection in the region, we analyzed 662,750 variants in 583 Kuwaiti individuals. We searched for regions in the genome that display signatures of positive selection in the Kuwaiti population using an integrative approach in a conservative manner. We highlight a haplotype overlapping TNKS that showed strong signals of positive selection based on the results of the multiple selection tests conducted (integrated Haplotype Score, Cross Population Extended Haplotype Homozygosity, Population Branch Statistics, and log-likelihood ratio scores). Notably, the TNKS haplotype under selection potentially conferred a fitness advantage to the Kuwaiti ancestors for surviving in the harsh environment while posing a major health risk to present-day Kuwaitis.
尽管阿拉伯半岛普遍存在极端且多样的环境条件，但它还是经历了几次人类迁徙浪潮，这些迁徙是在非洲大陆之外的大迁徙之后发生的。最终，半岛地区的居民适应了炎热干燥的环境。塑造阿拉伯半岛地区现存人类种群的适应和自然选择几乎没有得到研究。为了探索该地区的自然选择，我们分析了 583 名科威特个体中的 662,750 个变体。我们使用保守的综合方法，在科威特人群中搜索显示正选择特征的基因组区域。我们强调了一个重叠 TNKS 的单倍型，该单倍型基于进行的多项选择测试（综合单倍型得分、跨群体扩展单倍型纯合性、群体分支统计和对数似然比得分）结果显示出强烈的正选择信号。值得注意的是，受选择的 TNKS 单倍型可能为科威特祖先在恶劣环境中生存提供了适应优势，但对现今的科威特人构成了重大健康风险。
