title: EPAS1 Gene Polymorphisms Are Associated With High Altitude Polycythemia in Tibetans at the Qinghai-Tibetan Plateau.
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.
authors: 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).
authors: Jin
authors: J
authors: Xu
authors: Research Center for High Altitude Medical Sciences, Qinghai University School of Medicine, Qinghai, China (Drs Xu, Yang, Tang, Ga, Tana, and Ge).
authors: Ying-Zhong
authors: YZ
authors: Yang
authors: Research Center for High Altitude Medical Sciences, Qinghai University School of Medicine, Qinghai, China (Drs Xu, Yang, Tang, Ga, Tana, and Ge).
authors: Feng
authors: F
authors: Tang
authors: Research Center for High Altitude Medical Sciences, Qinghai University School of Medicine, Qinghai, China (Drs Xu, Yang, Tang, Ga, Tana, and Ge).
authors: Qin
authors: Q
authors: Ga
authors: Research Center for High Altitude Medical Sciences, Qinghai University School of Medicine, Qinghai, China (Drs Xu, Yang, Tang, Ga, Tana, and Ge).
authors: Wuren
authors: W
authors: Tana
authors: 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.
authors: Ri-Li
authors: RL
authors: Ge
mesh_terms: D000328:Adult; D000483:Alleles; D000531:Altitude; D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics* / Q000378:metabolism; D002681:China; D005006:Ethnicity; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D011086:Polycythemia / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D000099162:Endothelial PAS Domain-Containing Protein 1
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D000099162:Endothelial PAS Domain-Containing Protein 1
keywords: EPAS1; Tibetans; high altitude polycythemia; polymorphism