河南汉族人群eNOS基因27bpVNTR、G894T多态性与冠心病的相关性研究

Research on correlativity of 27 bpVNTR and G894T polymorphisms of endothelial nitric oxide synthase gene and coronary heart disease in Henan Han population

目的探讨内皮细胞型一氧化氮合酶(eNOS)基因27bpVNTR,G894T基因多态性与冠心病(CHD)的相关关系。方法运用PCR-RFLP方法对207例CHD患者和264例健康对照进行eNOS基因27bpVNTR,G894T多态性的检测分析,并进行基因型频率及等位基因频率的比较以及单倍型分析。结果4a/4a基因型频率以及4a等位基因频率的分布在CHD组与对照组差异有统计学意义(P<0.05);G894T多态的T等位基因频率在CHD组与对照组差异具有统计学意义(P<0.05)。4a-G、4b-G两种单倍型组合在CHD组与对照组差异具有统计学意义(P<0.05)。结论提示27bpVNTR基因多态与冠心病相关,4a等位基因,T等位基因可能是河南汉族人冠心病发生的遗传性危险因子。4a-G可能是河南汉族人冠心病发生的风险单倍型,而4b-G可能对河南汉族人冠心病的发生具有某种保护作用。

[Objective] To assess the relationship aming tandem repeats （VNTR） and G894T polymorphisms of the endothelial nitric oxide synthase （eNOS） gene CHD in Henan Han population. [Methods] A total of 207 CHD patients and 264 healthy volunteers were recruited in this case-control study. 27 bp VNTR and G894T polymorphisms of the endothelial nitric oxide synthase gene were detected by PCR-RFLP. Compared genotype frequency and allele gene frequency between CHD group and control group. Haplotype was also analyzed. [Results] There were significant differences in the genotype frequencies of 4a/4a and allele gene frequencies of 4a, and 894T between CHD group and control group （P 〈0.05）. Haplotype analysis revealed that 4a-G, 4b-G had significant differences between CHD group and control group （P 〈0.05）. [Conclusions] The allele gene of 4a and 894T in eNOS gene are associated with CHD and might be the risk factors of CHD for persons carrying it in Henan Han population. The haplotype of 4a-G may increase the risk of CHD, and the haplotype of 4b-G has protective effect against CHD in Henan han population.