心脏钠离子通道α亚单位SCN5A基因多态性与特发性室性心律失常  

Association of human cardiac sodium channel α subunit SCN5A gene polymorphisms with idiopathic ventricular arrhythmia

作　　者：方丹红[1] 吴立群[1] 陆林[2] 楼盛[2] 顾刚[1] 沈永初[1] 陈秋静[2] 蒲里津[2] 沈卫峰[1] 

机构地区：[1]上海交通大学医学院附属瑞金医院心内科,上海200025 [2]上海交通大学医学院心血管病研究所,上海200025

出　　处：《诊断学理论与实践》2007年第4期353-357,共5页Journal of Diagnostics Concepts & Practice

摘　　要：目的:探讨我国汉族人群心脏钠离子通道α亚单位(SCN5A)基因的遗传多态性与特发性室性心律失常(IVA)间的关系。方法:应用PCR产物直接测序技术,测定31例特发性室性心律失常患者和103名汉族健康人群的SCN5A基因编码区外显子、外显子-内含子交界区及3′侧翼区序列,并分析比较其遗传变异。结果:SCN5A基因的2个单核苷酸多态位点(SNP)c.87G>A(p.Ala29Ala)和c.1673A>G(p.His558Arg)其等位基因频率在健康对照组男、女间存在显著差异(分别为P=0.023和P=0.027)。此外,IVA女性患者87A等位基因频率显著高于健康女性(0.455∶0.198,P=0.013);而IVA男性患者1673G等位基因频率显著低于健康男性(0.025∶0.175,P=0.017)。结论:c.87G>A和c.1673A>G等位基因在我国健康汉族人群不同性别中分布不同;等位基因87A可能是女性IVA患者的遗传易感因素,而等位基因1673G在男性中可能具有预防室性心律失常作用而被阳性选择,但该结果仍有待进一步研究证实。Objective To investigate the relationship between humen cardiac sodium channel α subunit（voltage-gated sodium channel type V,SCN5A） gene polymorphism and occurrence of idiopathic ventricular arrhythmia（IVA） .Methods Genotyping for polymorphic variance of SCN5A gene was performed by polymerase chain reaction（PCR） and automated gene scan sequencing analysis in 31 unrelated Chinese patients with IVA（IVA group） and 103 healthy controls（control group） .Results The allele frequencies of c.87G〉A（p.Ala29Ala） and c.1673A〉G（p.His558Arg） were higher in the males than that in the females in the control group（P=0.023,P=0.027） .In women,patients with IVA had higher allele frequency of c.87G〉A than controls（0.455 vs.0.198,P=0.013） ,whereas in men,minor allele c.1673A〉G was significantly less prevalent in IVA patients compared with controls（0.025 vs.0.175,P=0.017） .Conclusions A significant difference in distribution of two single nucleotide polymorphisms（c.87G〉A and c.1673A〉G） between healthy men and women are demonstrated.The 87A allele may be associated with an increased risk of IVA in females,while 1673G allele may have been positively selected because of its protective effects against ventricular arrhythmia in males.

关 键 词：特发性室性心律失常 心脏钠离子通道α亚单位 单核苷酸多态性 

分 类 号：R571.7[医药卫生—消化系统]