Andean and Tibetan patterns of adaptation to high altitude
Andean and Tibetan patterns of adaptation to high altitude
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DOI：
10.1002/ajhb.22358
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发表时间：
2013-03-01
影响因子：
2.9
通讯作者：
Shriver, Mark D.
中科院分区：
文献类型：
--
作者：
Bigham, Abigail W.;Wilson, Megan J.;Shriver, Mark D.
目的高原缺氧，或低气压引起的氧气水平降低，对人类的生存和繁殖能力提出了挑战。尽管存在这些挑战，人类在安第斯高原和青藏高原生活了数千年，并表现出独特的循环，呼吸和血液适应高海拔生活。我们和其他人已经确定了自然选择的候选基因和基因区域，这些适应使用密集的基因组扫描数据。一个先前已知在细胞氧传感中很重要的基因，egl nine homologl 1（EGLN 1），在西藏人和安第斯人中都显示出正选择的证据。有趣的是，该基因的变异模式在两个种群之间不同。在藏族人群中的持续研究已经确定了血红蛋白浓度与EGLN 1和第二个基因内皮PAS结构域蛋白1（EPAS 1）的单核苷酸多态性（SNP）基因型之间的统计学关联。方法对EGLN 1和EPAS 1基因的10个SNPs进行多元线性回归分析，以了解EGLN 1和EPAS 1基因的海拔基因型对安第斯高原人血红蛋白浓度的影响。结果我们的分析未发现安第斯人EPAS1或EGLN1 SNP基因型与血红蛋白浓度之间存在显著相关性。结论这些结果有助于我们理解不同高原群体对高原低氧的独特适应。总的来说，这些结果为安第斯山脉和西藏人群对高海拔的遗传适应模式提供了关键的见解。Am. J.哈姆。25：190197，2013. (c)2013 Wiley Periodicals，Inc.
Objectives High-altitude hypoxia, or decreased oxygen levels caused by low barometric pressure, challenges the ability of humans to live and reproduce. Despite these challenges, human populations have lived on the Andean Altiplano and the Tibetan Plateau for millennia and exhibit unique circulatory, respiratory, and hematological adaptations to life at high altitude. We and others have identified natural selection candidate genes and gene regions for these adaptations using dense genome scan data. One gene previously known to be important in cellular oxygen sensing, egl nine homolog 1 (EGLN1), shows evidence of positive selection in both Tibetans and Andeans. Interestingly, the pattern of variation for this gene differs between the two populations. Continued research among Tibetan populations has identified statistical associations between hemoglobin concentration and single nucleotide polymorphism (SNP) genotype at EGLN1 and a second gene, endothelial PAS domain protein 1 (EPAS1). Methods To measure for the effects of EGLN1 and EPAS1 altitude genotypes on hemoglobin concentration among Andean highlanders, we performed a multiple linear regression analysis of 10 candidate SNPs in or near these two genes. Results Our analysis did not identify significant associations between EPAS1 or EGLN1 SNP genotypes and hemoglobin concentration in Andeans. Conclusions These results contribute to our understanding of the unique set of adaptations developed in different highland groups to the hypoxia of high altitude. Overall, the results provide key insights into the patterns of geneticadaptation to high altitude in Andean and Tibetan populations. Am. J. Hum. Biol. 25:190197, 2013. (c) 2013 Wiley Periodicals, Inc.