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目的:研究中国江苏汉族人群金属硫蛋白2A(Metallothionein2A,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。
Objective: To investigate the association between -838G / C polymorphism of metallothionein 2A (MT2A) gene and coronary heart disease in Han nationality in Jiangsu Province, China. Methods: MTT assay was used to detect the -838G / C polymorphism of MT2A gene in 287 CHD patients and 226 healthy controls. Results: The genotype and allele frequencies of -838G / C polymorphism of MT2A gene were significantly different between CHD group and control group (P <0.05). The frequency of MT2A-838C allele in CHD group was significantly higher than that in control group (31.4% vs 24.6%, P = 0.016). The risk of coronary heart disease in C allele carriers (GC + CC genotype) 1.562, OR = 1.562, 95% CI: 1.099 ~ 2.218, P = 0.013). Logistic regression analysis showed that carrying C allele was an independent risk factor for coronary heart disease (P <0.05). Coronary heart disease group C allele carriers coronary artery Gensini score was significantly higher than non-C allele carriers (P <0.05). CONCLUSION: The -838G / C polymorphism of MT2A gene is associated with the occurrence of coronary heart disease in Han nationality of Jiangsu province, China. The C allele may be the genetic susceptibility gene of coronary heart disease and affects the severity of coronary artery disease.