人类KCNE1基因单核苷酸多态性与心律失常关系的研究  

Genetic Polymorphisms of the Human KCNE1 Gene in Chinese Han Population and their Association with Arrhythmia

作　　者：楼盛[1] 陆林[2] 吴立群[2] 顾刚[2] 方丹红[2] 金奇[2] 陈秋静[2] 蒲里津[2] 

机构地区：[1]上市交通大学医学院附属瑞金医院心脏内科,200025 [2]上海市交通大学医学院附属瑞金医院心脏内科,200025

出　　处：《中国分子心脏病学杂志》2007年第1期4-8,共5页Molecular Cardiology of China

摘　　要：目的探讨中国汉族人群心肌钾离子通道β亚单位基因KCNE1的单核苷酸多态性(SNPs)与心律失常发生的关系。方法入选心律失常患者197例(病例组)及健康者104名(对照组),病例组根据基础疾病不同又分为心房颤动组(111例)、室上性心动过速组(52例)、室性心动过速组(34例)。采用聚合酶链式反应(PCR)方法扩增KCNE1基因编码区全部序列,直接行DNA测序以明确遗传变异类型,并进行统计分析研究。结果病例组与对照组均存在KCNE1-S38G多态性改变,两组基因型分布和等位基因频率存在一定差异,但无显著性。分组分析显示,室性心动过速组(包括特发性室性心动过速18例)基因型分布与对照组存在统计学差异(P＜0．05),A、G等位基因频率(45．6%和54．4%vs 26．9%和73．1%)相比差异显著(P＜0．01),基因型A/A、A/G与G/G型比较对室性心动过速的OR值分别为3．188(95%CI1．307～7．771)和3．500(95%CI 1．111～11．028)。分组比较各基因型间校正QT间期(QTc)等临床资料无显著差异。结论中国汉族人群中广泛存在KC- NE1-S38G单核苷酸多态性改变,室性心动过速组A等位基因频率明显高于对照组,该位点与室性心动过速有一定关联。Objective Human KCNE1 gene codes theβ-subunit of Iks potassium channel. We investigated the association between arrhythmia and the polymorphisms of KCNE1 gene in Chinese Han population. Methods We included 197 patients with arrhythmia （case patients） and 104 normal individuals （ control subjects）, the case patients were divided into 3 subgroups ： atrial fibrillation （ n = 111 ）, supraventricular tachycardia （ n = 52）, ventricular tachycardia （ n = 34）. The genotype of KCNE1 was determined with polymerase chain reaction and DNA sequencing. Results KCNE1-S38G polymorphism was found both in arrhythmia patients and control subjects. The results showed an association between the KCNE1-S38G and ventricular tachycardia. The ventricular tachycardia group had a significantly higher A allele frequency than the control group（45.6% vs 26.9%, P 〈 0.01）. The distribution of three genotypes （A/A, A/G, G/G） were also significantly different between the two groups （ P 〈 0.05 ）. The odds ratios for ventricular tachycardia in patients with A/A and A/G genotypes were 3. 188 （95% CI 1. 307 - 7. 771 ） and 3. 500（95% CI 1. 111 - 11.028）, respectively, when compared with G/G patients. Corrected QT interval （QTc） and other clinical features were not significantly different between three genotypes in each group. Conclusion KCNE1-S38G polymorphism is highly exist in Chinese Han population, A allele was more frequent in ventricular tachycardia patients than control subjects, this polymorphism may play a risk role on the pathogenesis of ventricular tachycardia.

关 键 词：KCNE1 单核苷酸多态性(SNPs) 心律失常 室性心动过速 中国汉族 

分 类 号：R541.7[医药卫生—心血管疾病]