KCNE2基因rs9305548多态位点与冠心病遗传易感性的关系

Association between KCNE2 rs9305548 polymorphism and genetic susceptibility of coronary artery disease

目的探讨KCNE2基因rs9305548多态性与广东地区汉族人群冠心病遗传易感性的关系。方法在广东地区汉族人群中随机选择704例冠心病患者和743例健康对照,采用直接测序法对KCNE2基因rs9305548多态位点进行分型,非条件逻辑回归分析该多态位点与冠心病遗传易感的相关性。结果 KCNE2基因rs9305548位点C、T等位基因及CC、CT、TT基因型在冠心病组分布频率分别是79.8%、20.2%、64.9%、29.7%、5.4%,在对照组中分别为76.1%、23.9%、59.4%、34.4%、6.2%,两组间等位基因及基因型频率分布差异有统计学意义（P〈0.05）。CT基因型和CT＋TT基因型均与冠心病遗传易感性相关（OR值分别是0.78和0.79~95%CI分别为0.63~0.98和0.64~0.98）。结论 KCNE2基因rs9305548多态位点可能与广东地区汉族人群冠心病遗传易感相关。

Objective To investigate the association between polymorphism of KCNE2 rs9305548 and risk of coronary artery disease（CAD） in Chinese Han population of Guangdong province. Methods The polymorphism of the KCNE2 rs9305548 was determined using direct sequencing in 704 CAD patients and 743 controls of Guangdong province, and its association with risk of CAD was evaluated using unconditional logistic regression analysis. Results The frequencies of C and T alleles and CC, CT and TT genotypes were 79.8%, 20.2%, 64.9%, 29.7%, and 5.4% in CAD group; and 76.1%, 23.9%, 59.4%, 34.4%, 6.2% in control group, respectively. There were significant differences in the distribution of C and T alleles and CC, CT and TT genotypes between two groups（P0.05）. CT and CT ＋ TT genotypes were correlated with teh risk of CAD（OR=0.78 and 0.79; 95% CI=0.63~0.98 and 0.64~0.98, respectively）. Conclusion Polymorphism of KCNE2 rs9305548 may be associated with genetic susceptibility of CAD in Chinese Han population of Guangdong province.