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1、中华心律失常学杂志2006年12月第10卷第6期ChinJCardiacArrhyth,2006,Vol.10No.6·433··临床基础研究·140例病态窦房结综合征与SCN5A基因单核昔酸多态性的关联研究谭深浦介麟曾治宇王方正滕思勇陈剑虹宿少勇周晓阳张封顾东风[摘要]目的病态窦房结综合征(病窦综合征)与SCN5A基因单核昔酸多态性的相关性。方法选取病窦综合征患者140例作为病例组，选取社区体检人群中126例作为非病窦综合征组。采用限制性片段长度多态性分析(RFLP)对SCN5A基因的H558R,P1090L,4299+53T>C,C5457T(D1819D)及V1951L多态位点进行基因
2、型鉴定。犷检验用于单因素分析时检验多态与病窦综合征间的关联，多元非条件Logistic回归模型用于检验多态位点与疾病的独立关联及与环境因素的交互作用。采用PHASE软件估算单体型频率。结果(1)SCN5AH558R,P1090L,4299+53T>C,C5457T(D1819D)及V1951L在中国汉族人群中的少见等位基因频率分别为11.1%,5.2%,28.2%,31.8%及0.4%.(2)应用Logistic回归模型分析多态位点与疾病的关系，在D1819D存在时，4299+53T>C多态在病例对照组间差异有统计学意义，P=0.023,OR二1.711a(3)将4299+53T>C及C54
3、57T(D1819功进行单体型分析发现T-C单体型在病例对照组间差异有统计学意义，P=0.012,OR=1.58。结论中国汉族人群中SCN5A基因中的4299+53T>C与C5457T(D1819D)多态位点可能与病窦综合征发生相关，两多态位点组成的T-C单体型对于病窦综合征可能有保护作用。【关键词】病态窦房结综合征;单核昔酸多态性;单体型SCN5AAssociationstudyofsinglenucleotidepolymorphismsofSCN5AgeneandsicksinussyndromeTANChen,PUJie-lin,ZENGZhi-yu,WANGFang-zheng,T
4、ENGSi-yong,CHENJian-hong,SUShao-yong,ZHOUXiao-yang,ZHANGShu,GUDongfeng.CenterofArrhythmiaDiagnosisandTreatment,FuwaiHospi-tal,CAMSandPUMC,Beijing100037，China[Abstract]ObjectiveToinvestigatethepossibleassociationbetweenpolymorphismsofSCN5AgeneandsicksinussyndromeinChineseHanpopulation.MethodsAcase-c
5、ontroldesignwasappliedinthisstudy.Atotalof140unrelatedhospitalizedpatientssufferedfromSSSwereenrolledfromFuwaiHospitalbe-tweenAugust2003andMay2004.Onehundredandtwenty-sixcontrolsubjectswererecruitedfromindividualsparticipatinginacommunity-basedsurveyinBeijingShijingshandistrict.FiveSNPsofSCN5AgeneH
6、558R,P1090L,4299+53T>C,C5457T(D1819D)andVI951Lweregenotypedbyrestrictionfragmentlengthpoly-morphism(RFLP)inallsubjects.Univariateanalysiswasappliedtomeasuretheassociationofsinglepoly-morphismwithSSS.Multivariateanalysiswasperformedtoinvestigatetheindependenteffectorinteractionbe-tweenthepolymorphis
7、msandSSS.HaplotypeanalysiswasconductedusingPHASEprogramandhaploscoreprogram.Results(1)InChineseHanpopulationminorallelefrequenciesofH558R,P1090L,4299+53T>C，C5457T(D1819D)andV1951Lwere1l.1%，5.2%，28.2%，31.8%a
