HIF-1α基因多态性与慢性高原病易感性的关系

An association study between hypoxia inducible factor-1alpha(HIF-1α) polymorphisms and chronic mountain sickness

目的:研究缺氧诱导因子1α(HIF-1α)的常见单核苷酸多态性C1772T、G1790A与慢性高原病(chronic mountain sickness,CMS)的易感性关系。方法 :通过病例-对照研究,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测青海高原地区100例CMS患者和100例健康对照人群在HIF-1α基因C1772T、G1790A位点的基因型分布,分析其与CMS易感性的关系。结果 :病例组和对照组中,HIF-1α基因C1772T、G1790A位点等位基因及基因型分布均符合Hardy-Weinberg平衡。在HIF-1α基因C1772T位点检出CC、CT两种基因型,未见TT基因型,两组基因型频率及等位基因频率比较差异无显著性(P>0.05);在HIF-1α基因G1790A位点检出GG、GA两种基因型,未见AA基因型,两组基因型频率及等位基因频率比较差异无显著性(P>0.05)。结论:缺氧诱导因子1α单核苷酸多态性C1772T、G1790A可能与CMS无关。

Objective To investigate the relationship between single nucleotide polymorphism（SNP） of hypoxia inducible factor-lalpha （HIF-1α）C1772T and G1790A genetic susceptibility to chronic mountain sickness （CMS）. Methods A case control study was undertaken in plateau area of Qinghai province in China, including 100 patients with CMS as case group and 100 healthy volunteers as control group. Their genotypes in HIF-1α C1772T and G1790A were identified with a combination of polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP）. Results The genotypes distributions among both controls and CMS patients showed a good agreement with Hardy-Weinberg equilibrium. The distribution of the frequencies of C/C, C/T genotypes in the two groups showed no significant difference （P 〉 0.05）, Genotype T/T was not found in this study. The distribution of the frequencies of G/G, G/A genotypes in the two groups also showed no significant difference（P 〉 0.05）, Genotype A/A was not found in this study. Conclusion HIF-1α C1772T and G1790A SNPs probably have no relationship with chronic mountain sickness.