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

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...

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Bibliographic Details
Published in:Wilderness & environmental medicine 2015-09, Vol.26 (3), p.288-294
Main Authors: Xu, Jin, MD, Yang, Ying-Zhong, PhD, Tang, Feng, PhD, Ga, Qin, MD, Tana, Wuren, MD, Ge, Ri-Li, MD, PhD
Format: Article
Language:English
Subjects:
Adult
Alleles
Altitude
Basic Helix-Loop-Helix Transcription Factors - genetics
Basic Helix-Loop-Helix Transcription Factors - metabolism
China
Emergency
EPAS1
Ethnic Groups
Female
Haplotypes
high altitude polycythemia
Humans
Male
Middle Aged
Polycythemia - genetics
polymorphism
Polymorphism, Single Nucleotide
Tibetans
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Summary: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.
ISSN:1080-6032
1545-1534
DOI:10.1016/j.wem.2015.01.002