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 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.
['Xu|Jin|J|', 'Yang|Ying-Zhong|YZ|', 'Tang|Feng|F|', 'Ga|Qin|Q|', 'Tana|Wuren|W|', 'Ge|Ri-Li|RL|']
D000328:Adult D000483:Alleles D000531:Altitude D051792:Basic Helix-Loop-Helix Transcription Factors D002681:China D005006:Ethnicity D005260:Female D006239:Haplotypes D006801:Humans D008297:Male D008875:Middle Aged D011086:Polycythemia D020641:Polymorphism, Single Nucleotide
EPAS1 polymorphism high altitude polycythemia Tibetans