Abstract
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. 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. 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. 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.
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