中国南方汉族人群中SCN5A基因多态位点和病态窦房结综合征的关联性  

Association between single nucleotide polymorphisms of SCN5A gene and sick sinus syndrome

作　　者：陈溢琳[1] 孟素荣[1] 陈智[1] 周国忠[1] 冯旭光[1] 谢昌联[1] 邓春凤[1] 

机构地区：[1]南方医科大学南方医院心内科,广东广州510515

出　　处：《心脏杂志》2009年第2期227-230,共4页Chinese Heart Journal

基　　金：广东省科技计划项目资助(73011)

摘　　要：目的中国南方汉族人群中SCN5A基因多态位点C5457T(D1819D)与病态窦房结综合征(SSS)的相关性。方法选取南方汉族SSS患者108例为病例组,以南方健康汉族人群123例为对照组,采用限制性片段长度多态性分析(RFLP),对SCN5A基因C5457T(D1819D)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C5457T(D1819D)多态位点在中国南方汉族人群SSS组和正常组比较,在年龄和性别上无显著性差异;基因型频率符合Hardy-Weinberg平衡定律;D1819D多态的基因型频率在两组间差异有统计学意义(P<0.05),SSS组T等位基因高于正常组;CC为保护基因型,CC基因型对病窦有明显影响(P<0.05)。结论中国南方汉族人群中D1819D多态位点可能和SSS发生相关;C等位基因可能是SSS的保护基因;T等位基因可能是SSS发病的易患基因。AIM To investigate the possible association between polymorphisms of SCN5A gene and sick sinus syndrome （SSS） in Han population in South China. METHODS A case-control design was applied in this study. A total of 108 unrelated hospitalized patients suffering from SSS were enrolled from Nafang Hospital between October 2006 and December 2007. One hundred and twenty-three control subjects were recruited from individuals participating in a community-based survey in Guangzhou area. One SNPs of SCNSA gene D1819D was genotyped by restriction fragment length polymorphism （RFLP） in all the subjects. Univariate analysis was applied to examine the association of single polymorphism with SSS and binary logistic regression was performed to investigate the independent effect between the gene type of the polymorphisms and SSS. RESULTS No significant difference was found in the age and the gender between SSS subjects and normal control （t=0. 814, P 〉 0.05 ; P = 0. 246, P 〉 0.05, respectively）. The frequencies of genotype of CC, CT and TF were respectively 24, 48, 36 in SSS subjects, and 48, 45, 30 in normal control, which were all in good agreement with Hardy-Weinberg equilibrium. There was a significant difference in the distributions of the genotypes （ CC, CT, TF） between SSS subjects and normal control （ x2 = 7. 701, P = 0. 021 ）. In addition, significant difference was also observed in D1819D allele frequency between the two groups （x2 = 7. 628, P = 0. 006）. Among Han population in Southern China, the minor allele frequency of D1819D was 0. 427. The presence of C allele of D1819D gene was found to be a greater protective factor in normal control than in SSS subjects. The odds radio （OR） of CC was 0.417 （0. 209 -0. 830）, when compared with that of Tr genotype, the P =0. 03 （P 〈0.05）. CONCLUSION The study suggests that existence of D1819D polymorphisms of SCN5A gene may be related to SSS in Han Nationality in South China. For SSS, C allele may be a protective gene, while T allele may be

关 键 词：病态窦房结综合征:基因多态性 SCNSA 

分 类 号：R541.74[医药卫生—心血管疾病]