金属硫蛋白2A基因-838G/C多态性与冠心病的关联研究

目的:研究中国江苏汉族人群金属硫蛋白2A(Metallothionein 2A, MT2A)基因-838G/C多态性与冠心病的关联性.方法:采用单荧光标记探针技术,检测287例冠心病患者和226例健康对照者的MT2A基因-838G/C多态性.结果:MT2A基因-838G/C多态性基因型和等位基因频率分布在冠心病组和对照组比较差异有统计学意义(P＜0.05).冠心病组MT2A -838C等位基因频率明显高于对照组(31.4%:24.6%,P=0.016),C等位基因携带者(GC+CC基因型)患冠心病的风险是GG基因型的1.562倍(OR=1.562,95%CI:1.099～2.218,P=0.013),Logistic回归分析显示,携带C等位基因是冠心病的独立危险因素(P＜0.05).冠心病组C等位基因携带者的冠状动脉Gensini积分明显高于非C等位基因携带者(P＜0.05).结论:MT2A基因-838G/C多态性与中国江苏汉族人群冠心病的发生有关联,C等位基因可能是冠心病发病的遗传易感基因,并影响冠状动脉病变的严重程度.

Study on the association of -838G/C polymorphism in the metallothionein 2A gene with coronary heart disease

Objective:To investigate the association between the -838G/C polymorphism in the metallothionein 2A(MT2A ) gene and coronary heart disease(CHD) in Chinese Han population of Jiangsu. Method:The genotypes of -838G/C polymorphism in the MT2A gene were detected by single-labeled probe technique in 287 CHD patients and 226 healthy controls. Results:There was a significant difference in frequencies of genotype and allele in -838G/C polymorphism between CHD and control group with CHD group was significantly higher than that in the control group (31.4% vs 24.6%,P=0.016).The relative risk of suffering from CHD with C allele carriers(GC+CC genotype) was 1.562 times higher than those with GG genotype (OR=1.562,95%CI:1.099-2.218,P=0.013). Logistic regression analysis found that carrying C allele was an independent risk factor of CHD(P＜0.05). Compared with non- C allele carriers, C allele carriers had significantly higher Gensini's coronary score in the CHD group(P＜0.05).Conclusion:The MT2A-838G/C polymorphism is associated with CHD in Chinese Han population of Jiangsu. C allele may be one of the genetic susceptible gene for CHD and may influent on the severity of coronary stenosis.