房颤患者CX40基因单核苷酸多态性研究

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，AA 、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。

Study on CX40 gene single nucleotide polymorphism in patients with atrial fibrillation

Objective To discuss the correlations of CX40 gene (GJA5 ) single nucleotide polymorphism (SNP) with atrial fibrillation. Methods Two hundreds of patients were selected in the Department of Cardiovascular Medicine, the First Affiliated Hospital of University of South China from June 2012 to December 2012 and divided into atrial fibrillation group (98 cases with continuous fibrillation) and control group (102 cases with sinus rhythm). Clinic information of the patients was collected. Left atrial diameters of the patients were collected through chest and cardiac color ultrasonography. DNA was extracted from venous blood. The locus of SNP was detected through PCR and electrophoresis, and directly examined after PCR products were purified. Based on Hardy-Weinberg Equilibrium examination, the genotype and gene frequency of each group were compared. And non-conditional logistic regressionanalysis was carried out on the risk factors of atrial fibrillation. Results GJA5 gene rs10465885 had A/G polymorphism. The frequency of allele A and G of the atrial fibrillation group was 0.54 and 0.46 respectively, and that of the control group was 0.45 and 0.55 respectively. In accordance with Hardy -Weinberg Equilibrium examination, the groups complied with the equilibrium. The AA genotype of the arial fibrillation group was significantly higher than that of the control group. There was not significant difference in AG, GG genotype or allele frequency between the two groups. The AA genotype of rs10465885 locus of GJA5 gene (OR = 2.49) and left atrial diameter (OR = 1.29) were the risk factors of atrial fibrillation. The genotype of GJA5 gene (rs10465885) had no correlation with the left atrial diameter. Conclusions Gene polymorphism exists at rs10465885 locus GJA5 of gene.AA genotype and left atrial diameter are the risk factors of atrial fibrillation.