SCN5A基因H558R位点多态性与新疆地区维吾尔族心房颤动的相关性研究

The relationship between H558R polymorphism of the SCN5A gene and atrial fibrillation in Uyghur population in Xinjiang

目的：探讨新疆地区维吾尔族心房颤动（房颤）与SCN5A基因H558R位点多态性的关系。方法：以维吾尔族房颤患者100例作为房颤组,以维吾尔族非房颤患者100例作为对照组,提取外周血DNA,运用聚合酶链反应（PCR）及DNA测序技术检测SCN5A基因H558R位点基因型及等位基因频率,并采用Logistic回归分析房颤与危险因素的关系。结果：SCN5A基因H558R位点AA、AG、GG基因型频率在房颤组中分别为0.57（57/100）、0.41（41/l00）和0.02（2/100）,在对照组中分别为0.74（74/100）、0.23（23/100）和0.03（3/100）（均P〈0.05）。房颤组AG基因型频率及G等位基因频率明显高于对照组（均P〈0.05）。Logistic回归分析显示,AG＋GG基因型与房颤发病有关联（OR=2.373,95%CI：1.217～4.629,P=0.011）。结论：新疆地区维吾尔族房颤的发生可能与SCN5A基因H558R位点多态性相关,SCN5A基因H558R位点G等位基因可能是维吾尔族房颤患者遗传易感性的独立危险因子。

Objective：To investigate the relationship between H558 Rpolymorphism of the SCN5 Agene and atrial fibrillation（AF）in Uyghur population in Xinjiang.Method：This research was carried out on 100 Uyghur patients with ECG-evidenced AF（AF group）,and 100 Uyghur subjects without ECG-evidenced AF（control group）.DNA samples was extracted from the peripheral blood,using polymerase chain reaction（PCR）method and DNA sequencing to detect the H558 Rpolymorphism of SCN5 Agene.Risk factors of AF were analyzed by Logistic regression analysis.Result：SCN5A-H558 Rgene AA,AG,GG genotype frequency were found respectively in AF group 0.57（57/100）、0.41（41/l00）and 0.02（2/100）and 0.74（74/100）、0.23（23/100）and 0.03（3/100）in control group（all P〈0.05）.There was significant difference between AF group and control group in SCN5 Agene H558Rpolymorphism genotype frequency and allele frequency（both P〈0.05）.The AG genotype and G allele in AF group had a significantly higher frequency than that in control group.Logistic regression analysis showed that the AG＋GG genotypes were significantly association with increased risk of developing AF（OR=2.373,95%CI：1.217-4.629,P=0.011）.Conclusion：The H558 Rpolymorphism of SCN5 Agene might be related to AF in Uyghur population in Xinjiang.G allele is a possible independent risk factor for genetic susceptibility to AF.