内皮型一氧化氮合酶基因G894T多态性与东乡族冠心病的相关性研究

目的：探讨东乡族人群内皮型一氧化氮合酶基（eNOS）G894T多态性与冠状动脉粥样硬化性心脏病（CHD）的发生及其严重程度间的关系。方法：根据冠状动脉造影结果选取甘肃临夏东乡族冠心病患者203例（CHD组）和正常对照组194例（CG组）,以冠状动脉病变支数判定严重程度。以聚合酶链式反应-限制性片段长度多态性分析法（PCR-RFLP）检测eNOS基因G894T多态性,分析G894T多态性与冠心病的关系。结果：冠心病组GT＋TT基因型分布与T等位基因频率均明显高于对照组（P均﹤0.05）;冠心病组eNOS基因型分布在单支与多支病变组之间差异无统计学意义（P﹤0.05）。结论：eNOS894位点G→T突变与东乡族人群冠心病的发生相关联,但与其严重程度间无关联。

Correlation of Endothelial Nitric Oxide Synthase Gene G894T Polymorphism with Coronary Heart Disease on Dongxiang Ethnic Minority

Objective： To investigate the correlation between the eNOS G894T polymorphism and the presence and severity of coronary heart disease （CHD） in Dongxiang ethnic minority.Methods： All patients were selected from the Dongxiang ethnic minority ,including CHD patient 203 examples in which the severity of CHD was expressed by the number of affected vessels and the normal group 194 examples by coronary angiograms.The polymerase chain reaction -restriction fragment length polymorphism analysis（PCR-RFLP） was used to detect the genetype in G894T variant of the eNOS gene in both samples.Results： The frequencies of the eNOS GT＋TT genotypes and T allele in the CHD group were significantly higher than that in control group （P0.05） ;and the frequency of the eNOS GT and TT genotypes between the different number of affected vessels was not significantly different in CHD（ P0.05）.Conclusions： eNOS894 site G→T mutation is associated with the presence of CHD in Dongxiang ethnic minority population,but has not relationship with the severity of CHD.