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 Medjournal_title
Wilderness & environmental medicineauthors
Yang YZ,Wang YP,Qi YJ,Du Y,Ma L,Ga Q,Ge RLdoi
10.1016/j.wem.2013.05.006subject
Has Abstractpub_date
2013-12-01 00:00:00pages
315-20issue
4eissn
1080-6032issn
1545-1534pii
S1080-6032(13)00150-6journal_volume
24pub_type
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journal_title:Wilderness & environmental medicine
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journal_title:Wilderness & environmental medicine
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pub_type: 杂志文章
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更新日期:2016-03-01 00:00:00
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journal_title:Wilderness & environmental medicine
pub_type: 杂志文章
doi:10.1580/06-weme-or-013r.1
更新日期:2007-04-01 00:00:00
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doi:10.1016/j.wem.2010.10.007
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journal_title:Wilderness & environmental medicine
pub_type: 杂志文章,随机对照试验
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更新日期:1995-05-01 00:00:00
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pub_type: 杂志文章
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更新日期:2016-06-01 00:00:00
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更新日期:2004-07-01 00:00:00
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更新日期:2003-10-01 00:00:00
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更新日期:2015-09-01 00:00:00
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journal_title:Wilderness & environmental medicine
pub_type: 杂志文章
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journal_title:Wilderness & environmental medicine
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更新日期:2018-12-01 00:00:00
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更新日期:2020-03-01 00:00:00