SCN5A基因A1673G多态性与孤立阵发房颤的关联研究

Association Between Single Nucleotide Polymorphism in Human SCN5A Gene and Lone Paroxysmal Atrial Fibrillation in Chinese

目的中国汉族人群中SCN5A基因A1673G多态与孤立阵发房颤的相关性。方法选取汉族孤立阵发房颤患者120例为观察组,以健康汉族人群120例为对照组,采用限制性片段长度多态性分析(RFLP),对SCN5A基因A1673G的多态位点进行基因型鉴定,并随机挑选样本进行测序,检验其可靠性。结果 SCN5A基因A1673G多态位点在中国汉族人群孤立阵发房颤患者和正常组比较,基因型频率符合Hardy-Weinberg平衡定律;A1673G多态的基因型频率在两组间差异有统计学意义(P<0.05),房颤患者G等位基因高于正常组;GG基因型对房颤患者有明显影响(P<0.05)。结论 SCN5A基因变异可能与中国汉族人群孤立阵发性房颤相关。

Objective To investigate the possible association between polymorphism of SCN5A gene A1673G and lone paroxysma atrial fibrillation in Han population in China.Methods A case-control design was applied in this study.A total of 120 unrelated hospitalized patients suffering from lone paroxysma atrial fibrillation were enrolled from Hospital.One hundred and twenty control subjects were recruited from individuals participating in a community-based survey in Nanfang area.One SNPs of SCN 5A gene A1673G was genotyped by restriction fragment length polymorphism（RFLP）in all the subjects.Univariate analysiswas applied to examine the association of single polymorphism with lone paroxysmal atrial fibrillation and binary logistic regression was performed to investigate the independent effect between the gene type of the polymorphisms and lone paroxysma atrial fibrillation.Results No significant difference was found in the age and the gender between lone paroxysmal atrial fibrillation subjects and normal ones.The frequencies of genotype of AA,AG and GG were all in good agreement with Hardy-Weinberg equilibrium.There was a significant difference in the distributions of the genotypes（AA,GG,AG） between lone paroxysma atrial fibrillation subjects and normal control.The presence of A allele of A1673G gene was found to be a greater protective factor in normal control than in lone paroxysmal atrial fibrillation subjects.The odds radio（OR） of GG was 0.581（0.395～0.855）,when compared with that of AA genotype,the P=0.006（P〈0.05）.Conclusions SCN5A gene variation may be associated with lone paroxysma atrial fibrillation in Chinese Han population.