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Endothelial PAS Domain Protein 1 Chr2:46441523(hg18) Polymorphism Is Associated With Susceptibility to High Altitude Pulmonary Edema in Han Chinese.
- Source :
- Wilderness & Environmental Medicine (Elsevier Science); Dec2013, Vol. 24 Issue 4, p315-320, 6p
- Publication Year :
- 2013
-
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. [Copyright &y& Elsevier]
Details
- Language :
- English
- ISSN :
- 10806032
- Volume :
- 24
- Issue :
- 4
- Database :
- Supplemental Index
- Journal :
- Wilderness & Environmental Medicine (Elsevier Science)
- Publication Type :
- Academic Journal
- Accession number :
- 92028200
- Full Text :
- https://doi.org/10.1016/j.wem.2013.05.006