B细胞活化因子启动子-871 C/T基因多态性与系统性红斑狼疮的相关性研究

摘要

Objective The study was aimed to detect the correlation of B cell activating factor (BAFF) promotor polymorphism-871 C/T and systemic lupus erythematosus (SLE).Methods BAFF promotor polymorphism-871 C/T was detected by the means of allele specific polymerase chain reaction (ASPCR) and agarose gel electrophoresis in 76 cases of SLE and 80 nonthrombosis normal individuals.The data of genotypic frequency and allele genotypic frequency were analyzed statistically with x2 test between the two groups.Results Fifty-one point two percent of normal individuals exhibited C/C.Thirty-five percent were heterozygous for C/T,and 13.8％ were homozygous for T/T.SLE group exhibited a different distribution pattern (30.3％ C/C,43.4％C/T,26.3％T/T).The allele frequency of T in SLE and normal individuals was 48.0％ and 31.2％ respectively.There was significant difference in the BAFF-871 C/T genotypic frequency between the SLE and nonthrombosis normal individuals (P＜0.05).Conclusion The polymorphism-871 C/T of BAFF promoter is correlated with the pathogenesis of SLE.The gene may be a major susceptible gene for SLE in Chinses Han people.Further investigations may be needed.%目的 探讨B细胞活化因子(BAFF)-871C/T基因多态性与系统性红斑狼疮(SLE)患者的相关性.方法 采用等位基因特异性聚合酶链反应(AS-PCR)及琼脂糖凝胶电泳,对76例SLE患者、80名健康对照者进行BAFF启动子序列-871C/T位点基因多态性分析.2组间基因型频率及等位基因频率进行x2检验.结果 该位点存在C/C、C/T、T/T 3种基因型,基因型分布在SLE组分别为C/C型30.3％、C/T型43.4％、T/T型26.3％,对照组分别为C/C型51.2％、C/T型35.0％、T/T型13.8％.T等位基因频率在SLE组为48.1％、对照组为31.2％,基因型分布和等位基因频率在2组间的差异有统计学意义(P＜0.05).结论 BAFF启动子-871 C/T基因多态性与SLE的发病有相关性,该基因可能是中国汉族人发生SLE的易感基因.