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目的探讨缝隙连接蛋白40基因(GJA5)单核苷酸多态性在房颤发生中的作用。方法选择2012年6~12月南华大学附属第一医院心血管内科住院患者200例,分为房颤组98例(持续性发颤)及对照组102例(窦性心律)。收集患者一般临床资料并通过经胸心脏彩超采集患者左房内径值,静脉采血提取DNA,经聚合酶链反应(PCR)及电泳法检测SNP的位点,PCR扩增产物纯化后直接测序查看SNP位点;哈德温伯格平衡检验后,比较各组间基因分型和基因频率,就房颤危险因素非条件Logistic回归分析。结果 GJA5基因rs10465885存在A/G多态性,房颤组等位基因A、G频率分别为0.54和0.46。对照组等位基因A、G频率分别为0.45和0.55。哈德温伯格平衡检验显示组间均符合其平衡,房颤组AA基因型高于对照组,AG、GG基因型以及等位基因频率差异无统计学意义。GJA5基因(rs10465885)AA基因型(OR∧=2.49)和左房直径(OR∧=1.29)是房颤的危险因素,GJA5基因(rs10465885)基因型和左房直径无关。结论 GJA5基因rs10465885位点存在基因多态性,AA基因型与左房直径是房颤的危险因素。
Objective To investigate the role of GJA5 SNP in the pathogenesis of atrial fibrillation. Methods 200 patients admitted to the First Affiliated Hospital of Nanhua University from June 2012 to December 2012 were divided into atrial fibrillation group (sustained tremor) and control group (n = 102) (sinus rhythm). The general clinical data of patients were collected and the left atrium diameter was collected by transthoracic echocardiography. DNA was extracted by venous blood sampling. The SNPs were detected by polymerase chain reaction (PCR) and electrophoresis. The purified PCR products were directly sequenced for SNPs Site; After the Wede Weinberg equilibrium test, genotypes and gene frequencies were compared among groups to analyze the unconditional Logistic regression analysis of risk factors of atrial fibrillation. Results There was A / G polymorphism in rs10465885 of GJA5 gene. The frequencies of alleles A and G in AF group were 0.54 and 0.46, respectively. Control group allele A, G frequency were 0.45 and 0.55. Hardweinberg equilibrium test showed that the groups were in line with their balance AA genotype in AF group was higher than the control group, AG, GG genotypes and allele frequencies were not statistically different. The AA genotype (OR ∧ 2.49) and left atrial diameter (OR ∧ 1.29) of GJA5 gene (rs10465885) were the risk factors of atrial fibrillation. The genotype of GJA5 gene (rs10465885) was not related to left atrial diameter. Conclusion GJA5 gene rs10465885 locus polymorphism exists, AA genotype and left atrial diameter is a risk factor for atrial fibrillation.