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Genome-Wide Selection Scan in an Arabian Peninsula Population Identifies a TNKS Haplotype Linked to Metabolic Traits and Hypertension.
Genome Biology and Evolution ( IF 3.3 ) Pub Date : 2020-02-18 , DOI: 10.1093/gbe/evaa033
Muthukrishnan Eaaswarkhanth 1 , Andre Luiz Campelo Dos Santos 2, 3 , Omer Gokcumen 2 , Fahd Al-Mulla 1 , Thangavel Alphonse Thanaraj 1
Affiliation  

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.

中文翻译:

阿拉伯半岛人群中的全基因组选择扫描可识别与代谢性状和高血压相关的TNKS单倍型。

尽管阿拉伯半岛普遍存在着极端和多变的环境条件,但由于非洲以外的侨民,它经历了几波人类迁徙浪潮。最终,半岛地区的居民适应了炎热干燥的环境。很少研究形成阿拉伯半岛地区现有人口的适应和自然选择。为了探索该地区的自然选择,我们分析了583名科威特人的662,750个变体。我们以保守的方式使用综合方法搜索了在科威特人群中显示出阳性选择特征的基因组区域。我们突出显示了一个单倍型重叠TNKS,该单倍型重叠TNKS根据进行的多项选择测试的结果(整合单倍型评分,跨群体扩展单倍型纯合性,人口分支统计和对数似然比得分)显示出强烈的阳性选择信号。值得注意的是,所选择的TNKS单倍型可能为科威特祖先提供了健身优势,使其可以在恶劣的环境中生存,同时对当今的科威特人构成重大健康风险。
更新日期:2020-04-17
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