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目的探讨内皮素-1(ET-1)基因Taq I多态性与中国汉族人群冠心病(CHD)的关系。方法应用聚合酶链反应(PCR)、限制性片段长度多态性分析(RFLP),对138例中国汉族CHD患者和112例对照组进行ET-1基因Taq I多态性分析。结果CHD组ET-1基因Taq I多态性TT、TC、CC基因型频率与对照组比较,TC和CC基因型频率显着高于对照组,差异有极显着性(X~2=17.5,P<0.01)。T、C等位基因频率与对照组比较,C等位基因频率显着高于对照组,差异有极显着性(X~2= 15.56,P<0.01)。经Logistic回归分析CHD的危险因素显示,ET-1基因Taq I多态性(C等位基因)为CHD的一个独立危险因素。结论ET-1基因Taq I多态性与中国汉族人群CHD的发生具有相关性,C等位基因可能是CHD的易感性标志。
Objective To investigate the relationship between the Taq I polymorphism of endothelin-1 (ET-1) gene and coronary heart disease (CHD) in Chinese Han population. Methods Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were used to analyze the Taq I polymorphism of ET-1 gene in 138 Chinese Han patients with CHD and 112 controls. Results The frequencies of TT, TC and CC genotypes of ET-1 gene Taq I polymorphism in CHD group were significantly higher than those in control group (X 2 = 17.5 , P <0.01). The frequencies of T allele and C allele were significantly higher than those of the control group (P <0.01), and the frequency of C allele was significantly higher than that of the control group (X ~ 2 = 15.56, P <0.01). Logistic regression analysis of risk factors for CHD showed that ET-1 Taq I polymorphism (C allele) was an independent risk factor for CHD. Conclusion The Taq I polymorphism of ET-1 gene is associated with the occurrence of CHD in Chinese Han population. The C allele may be the marker of CHD susceptibility.