Connexin37基因C1019T多态性与冠心病的关联研究

目的研究缝隙连接蛋白Connexin37基因C1019T多态性与冠心病危险性的关系。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测了173例冠心病患者和148例对照的Connexin37基因C1019T基因型和等位基因的分布。结果两组基因型频率符合Hardy-Weinberg平衡。冠心病组的Connexin37基因TT和TC基因型的频率显著高于对照组(54.9%比39.2%,P<0.05),同样冠心病组T等位基因的频率显著高于对照组(35.3%比23.6%,P<0.01)。经Logistic回归分析,T等位基因携带者(TT+TC)患冠心病的危险性是CC基因型的2.34倍(95%的CI为1.03-5.32,P<0.05)。结论Connexin37基因C1019T多态性与冠心病的危险性相关,其中T等位基因可能是冠心病的遗传危险因素。

The Association between Connexin37 Gene C1019T Polymorphism and Coronary Heart Disease

Objective To investigate the association between gap junction protein Connexin37 gene C1019T polymorphism and coronary heart disease(CHD).Methods Using polymerase chain reaction-restrictive fragment length polymorphism(PCR-RFLP) method,the genotype and allele distribution of Connexin37 gene C1019T polymorphism in 173 CHD patients and 148 controls were analyzed.Results Distribution of Connexin37 genotype was in Hardy-Weinberg equilibrium for both groups(CHD and control groups).The frequency of TT and TC genotype in CHD group was significantly higher than in control group(54.9% vs 39.2%,P<0.05);similarly,the frequency of T allele in CHD group was significantly higher than in control group(35.3% vs 23.6%,P<0.01).After adjusted for the influence of age,gender and other CHD risk factors by multiple Logistic regression analysis,those who are T allele carriers(TT TC) have as 2.34 times higher risk to suffer from CHD than those who have CC genotype(95%CI=1.03-5.32,P<0.05).Conclusion Connexin37 gene C1019T polymorphism is associated with CHD risk,T allele carriers have a higher risk to suffer from CHD, T allele may serve as a genetic risk factor of coronary heart disease.