中文摘要：

目的 病态窦房结综合征（病窦综合征）与SCN5A基因单核苷酸多态性的相关性。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多态位点进行基因型鉴定。χ^2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=1．711。（3）将4299＋53T〉C及C5457T（D1819D）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。

英文摘要：

Objective To investigate the possible association between polymorphisms of SCNSA gene and sick sinus syndrome in Chinese Han population. Methods A case-control design was applied in this study. A total of 140 unrelated hospitalized patients suffered from SSS were enrolled from Fuwai Hospital between August 2003 and May 2004. One hundred and twenty-six control subjects were recruited from individuals participating in a community-based survey in Beijing Shijingshan district. Five SNPs of SCNSA gene H558R, P1090L, 4299 ＋ 53T 〉 C, C5457T（D1819D） and V1951L were genotyped by restriction fragment length polymorphism （RFLP） in all subjects. Univariate analysis was applied to measure the association of single polymorphism with SSS. Multivariate analysis was performed to investigate the independent effect or interaction between the polymorphisms and SSS. Haplotype analysis was conducted using PHASE program and haploscore program. Results （1） In Chinese Han population minor allele frequencies of H558R, P1090L, 4299 ＋ 53T 〉 C, C 5457T（D1819D） and V1951L were 11.1%, 5.2%, 28.2%, 31.8% and 0. 4%, respectively. （2） The multivariate analysis indicated 4299 ＋53T 〉 C polymorphism might be associated with SSS. It was imperative that D1819D exist with it simultaneously. （3） Haplotypo analysis, including 4299 ＋ 53T 〉 C and C5457T polymorohisms, showed the difference of haplotype T-C between case and control group was significant, with P value and OR were 0. 012 and 1.58 respectively. Conclusion The study suggested existence of 4299 ＋53T 〉 C and C5457T （DI819D） polymorphisms of SCNSA gene simultaneously might be related to SSS. The haplotype T-C （4299 ＋53T 〉 C and C5457T） may be a protective haplotype of SSS.