Jin Xu1, Ying-Zhong Yang2, Feng Tang2, Qin Ga2, Wuren Tana2, Ri-Li Ge3. 1. Research Center for High Altitude Medical Sciences, Qinghai University School of Medicine, Qinghai, China (Drs Xu, Yang, Tang, Ga, Tana, and Ge); Department of Clinical Medicine, Qinghai University School of Medicine, Qinghai, China (Dr Xu). 2. Research Center for High Altitude Medical Sciences, Qinghai University School of Medicine, Qinghai, China (Drs Xu, Yang, Tang, Ga, Tana, and Ge). 3. Research Center for High Altitude Medical Sciences, Qinghai University School of Medicine, Qinghai, China (Drs Xu, Yang, Tang, Ga, Tana, and Ge). Electronic address: geriligao@hotmail.com.
Abstract
OBJECTIVE: 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. METHODS: 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. RESULTS: 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). CONCLUSIONS: Compared with normal Tibetans, Tibetans with HAPC are maladapted and have a different haplotype in EPAS1 SNPs rs12619696, rs13419896, and rs4953354.
OBJECTIVE: 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. METHODS: 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. RESULTS: 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). CONCLUSIONS: Compared with normal Tibetans, Tibetans with HAPC are maladapted and have a different haplotype in EPAS1 SNPs rs12619696, rs13419896, and rs4953354.
Authors: Jang Ik Cho; Buddha Basnyat; Choongwon Jeong; Anna Di Rienzo; Geoff Childs; Sienna R Craig; Jiayang Sun; Cynthia M Beall Journal: Evol Med Public Health Date: 2017-04-21