title: Endothelial PAS domain protein 1 Chr2:46441523(hg18) polymorphism is associated with susceptibility to high altitude pulmonary edema in Han Chinese.
abstract: OBJECTIVE
  The purpose of this study was to test the hypothesis that polymorphisms in the endothelial PAS domain protein 1 (EPAS1) gene are associated with the susceptibility to high altitude pulmonary edema (HAPE) in Han Chinese.
  
  
  METHODS
  This study enrolled 153 HAPE patients (HAPE-p), matched with Han Chinese resistant to HAPE (HAPE-r) and local highland Tibetans from Yushu earthquake construction population in Qinghai where the altitude is more than 3500 m above sea level. The polymorphism of EPAS1 chr2:46441523(hg18) was genotyped by polymerase chain reaction restriction fragment length polymorphism and confirmed by DNA sequencing.
  
  
  RESULTS
  The frequencies of EPAS1 chr2:46441523(hg18) polymorphism C allele were significantly higher in the HAPE-p group than in the HAPE-r group (P < .001), but the frequencies of heterozygous C/G were significantly higher in the HAPE-r group than in the HAPE-p group (P < .001). Moreover, the frequencies of the EPAS1 chr2:46441523(hg18) polymorphism G allele were significantly higher in the highland Tibetan group than in the HAPE-p and HAPE-r groups.
  
  
  CONCLUSIONS
  The EPAS1 chr2:46441523(hg18) polymorphism C is strongly associated with susceptibility to HAPE in Han Chinese, and the EPAS1 chr2:46441523(hg18) polymorphism G is present at high frequency and may be associated with high altitude adaptation in the Tibetans.
authors.affiliation: Research Center for High Altitude Medical Sciences, Qinghai University School of Medicine, Qinghai, China.
authors.forename: Ying-zhong
authors.initials: YZ
authors.lastname: Yang
authors.forename: Ya-ping
authors.initials: YP
authors.lastname: Wang
authors.forename: Yu-juan
authors.initials: YJ
authors.lastname: Qi
authors.forename: Yang
authors.initials: Y
authors.lastname: Du
authors.forename: Lan
authors.initials: L
authors.lastname: Ma
authors.forename: Qin
authors.initials: Q
authors.lastname: Ga
authors.forename: Ri-li
authors.initials: RL
authors.lastname: Ge
mesh_terms: D000483:Alleles; D000531:Altitude; D044466:Asian People / Q000235:genetics; D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics* / Q000378:metabolism; D016022:Case-Control Studies; D002681:China / Q000208:ethnology; D005260:Female; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D015995:Prevalence; D011654:Pulmonary Edema / Q000453:epidemiology / Q000235:genetics*; D018609:Tibet / Q000453:epidemiology; D000099162:Endothelial PAS Domain-Containing Protein 1
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D000099162:Endothelial PAS Domain-Containing Protein 1
keywords: EPAS1; high altitude pulmonary edema; single nucleotide polymorphism; susceptibility