NR3C1基因Bcl-1(rs41423247)多态性位点与汉族高原肺水肿相关性分析（英文）

Association Study between the Bcl-1(rs41423247) Polymorphism of NR3C1 Gene and High Altitude Pulmonary Edema in the Han Chinese

目的探讨NR3C1基因Bcl-1多态性位点与汉族高原肺水肿(HAPE)相关关系。方法采用病例对照研究,选取HAPE患者133例及性别年龄匹配的对照组135例。采用Sequenom Mass ARRAYSNP检测技术对Bcl-1位点进行基因分型。结果 Bcl-1的基因型GG在HAPE组(69.9%)和对照组(56.3%)组间差异有显著性(P<0.05);等位基因G在HAPE组(83.5%)和对照组(74.4%)组间差异有显著性(P<0.05),odds ratio为1.732(1.134~2.645)。结论 Bcl-1的基因型GG和等位基因G在HAPE组和对照组间差异有显著性,可能与HAPE的病理生理过程相关。

Objective To test whether the Bcl-1 polymorphism of NR3C1 gene is associated with the susceptibil- ity to HAPE（ high-altitude pulmonary edema）in the Han Chinese.Methods The Bcl-1 polymorphism of NR3C1 gene were genotyped by Sequenom MassARRAY SNP in 133 HAPE patients（HAPE-p） ,matched 135 healthy Han-Chi- nese controls（HAPE-r）.Hardy-Weinberg equilibrium（HWE） was used to assess the goodness of fit with the geno- types. Chi -square test was used to calculate the differences of genotype and allele distributions.Odds ratios（ ORs）with corresponding 95% confidence intervals（95% CIs）were used to analyze the association between the Bcl-1 polymor- phism and HAPE.Results The Bcl-1 GG genotype in HAPE group （ 69.9% ） and control group（56.3%）there was sig- nificant difference between the two groups （P〈0.05） ; allele G in HAPE group （83.5%） and control group （74.4%） there was significant difference between the two groups（P〈0.05 ）odds ratio, 1.732（ 1.134-2.645 ）.Conclusions The Bcl-1 lymorphism of NR3C1 gene is correlated with HAPE susceptibility in current study.GG genotype and G allele of Bcl-1 polymorphism might increase the risk of HAPE in Han Chinese.