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.

journal_name

Wilderness Environ Med

authors

Yang YZ,Wang YP,Qi YJ,Du Y,Ma L,Ga Q,Ge RL

doi

10.1016/j.wem.2013.05.006

subject

Has Abstract

pub_date

2013-12-01 00:00:00

pages

315-20

issue

4

eissn

1080-6032

issn

1545-1534

pii

S1080-6032(13)00150-6

journal_volume

24

pub_type

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