EPAS1 Gene Polymorphisms Are Associated With High Altitude Polycythemia in Tibetans at the Qinghai-Tibetan Plateau

Wilderness & Environmental Medicine
Jin XuRi-Li Ge

Abstract

To test the hypothesis that the polymorphisms in the EPAS1 gene are associated with the susceptibility to high altitude polycythemia (HAPC) in Tibetans at the Qinghai-Tibetan Plateau. We enrolled 63 Tibetan HAPC patients and 131 matched healthy Tibetans as a control group, from the Yushu area in Qinghai where the altitude is greater than 3500 m. Eight single-nucleotide polymorphisms (SNPs) of the EPAS1 gene, including rs12619696, rs13420857, rs2881504, rs4953388, rs13419896, rs4953354, rs10187368, and rs7587138, were genotyped by the Sequenom MassARRAY SNP assay. The frequencies of the G allele of EPAS1 SNP rs13419896 were significantly higher in the HAPC group than in the control group (P < .05). Moreover, the A alleles of rs12619696 and rs4953354 were prevalent in the HAPC group, and their counterpart homozygotes were prevalent in the normal Tibetan group (P < .05). Compared with normal Tibetans, Tibetans with HAPC are maladapted and have a different haplotype in EPAS1 SNPs rs12619696, rs13419896, and rs4953354.

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Citations

Sep 8, 2018·High Altitude Medicine & Biology·Feng TangRi-Li Ge
Jun 2, 2017·Evolution, Medicine, and Public Health·Jang Ik ChoCynthia M Beall
Oct 27, 2020·Frontiers in Genetics·Yoshiki YasukochiTakafumi Maeda
Jan 6, 2021·Tropical Medicine and Health·Hiroaki ArimaTaro Yamamoto
May 30, 2020·Blood Cells, Molecules & Diseases·Huihui LiuZhanquan Li

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