Abstract
BackgroundHigh-altitude pulmonary edema (HAPE) is a serious acute mountain sickness that mainly occurs in non-acclimatized individuals after rapid ascent to high altitude. The precise etiology of HAPE remains unclear. This study aimed to investigate whether NR3C1 gene polymorphism is associated with the susceptibility to HAPE.MethodsThe exons of NR3C1 gene were sequenced by a ABI 3730 DNA analyzer in 133 HAPE patients and matched 135 healthy Han Chinese controls from the Yushu area in Qinghai (the altitude greater than 3500 m).ResultsDNA sequencing showed the heterozygous substitutions at codon 588 (rs6194) in exon 6 and 766 (rs6196) in exon 9 of NR3C1 gene. The genotypic distributions and allelic frequencies of NR3C1 SNP rs6194 showed significant differences in two groups (P < 0.05). The frequencies of the C allele were significantly higher in the HAPE group than in the control group (P < 0.05) with an odds ratio of 3.009 (95% CI = 1.250-7.244). There were no differences in genotypic and allelic frequencies in rs6196 polymorphism between the two groups.ConclusionsNR3C1 gene rs6194 polymorphism is correlated with HAPE susceptibility. CC genotype and C allele of rs6194 polymorphism might increase the risk of HAPE in Han Chinese.
Highlights
High-altitude pulmonary edema (HAPE) is a serious acute mountain sickness that mainly occurs in non-acclimatized individuals after rapid ascent to high altitude
The variant in exon 9 was a silent T to C heterozygous change (AAT to AAC, both encoding asparagine, synonymous codon). These polymorphisms had been deposited in dbSNP with the accession number rs6194 and rs6196, respectively
Genotype distributions of rs6194 and rs6196 polymorphisms did not deviate from Hardy-Weinberg equilibrium (HWE) in HAPE and Non-HAPE groups (P = 0.754 for rs6194 in HAPE group, P = 0.346 for rs6194 in Non-HAPE group, P = 0.491 for rs6196 in HAPE group, and P = 0. 216 for rs6196 in Non-HAPE group)
Summary
High-altitude pulmonary edema (HAPE) is a serious acute mountain sickness that mainly occurs in non-acclimatized individuals after rapid ascent to high altitude. This study aimed to investigate whether NR3C1 gene polymorphism is associated with the susceptibility to HAPE. High-altitude pulmonary edema (HAPE) is noncardiogenic pulmonary edema that usually occurs in rapidly ascending non-acclimatized individuals within the first week after arrival at altitudes above 2500 m [1, 2]. HAPE tends to be associated with exaggerated pulmonary hypertension and is defined as a non-inflammatory hemorrhagic pulmonary edema [3]. We performed a genetic sequencing and screening in HAPE patients to investigate possible association of genetic variations of NR3C1 gene with HAPE
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