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目的 明确中国人群中Bcl 2基因多态性是否与系统性红斑狼疮 (SLE)相关 ,检测Bcl 2与IL 10易感等位基因间是否存在协同作用。方法 通过荧光标记微卫星分型技术对 2 32个SLE核心家系及 10 6例正常对照进行Bcl 2微卫星的基因分型。结果 (1)两组对象Bcl 2等位基因和主要基因型分布频率差异有显著意义 (P值分别为 0 0 0 1和 0 0 0 3) ;(2 )Bcl 2等位基因存在传递不平衡 ,Bcl 2 195bp等位基因从父母优势传递给患病子代 (传递∶不传递 =12 2∶82 ,P =0 0 0 5 1) ;(3)同时携带Bcl 2 195bp和IL 10G138bp易感等位基因的个体较单独携带Bcl 2 195bp或IL 10G138bp的个体 ,患病的危险性增加 (OR值分别为 3 0 0 ,1 77和 1 0 7)。结论 Bcl 2基因多态与SLE发病相关 ,其可能直接参与SLE发病或与附近某个易感位点存在连锁不平衡。Bcl 2与IL 10易感等位基因在决定SLE易感中存在协同作用。
Objective To determine whether the Bcl-2 gene polymorphisms in Chinese population are associated with systemic lupus erythematosus (SLE) and to detect the synergistic effect between Bcl-2 and IL-10 susceptible alleles. Methods The genotypes of Bcl 2 microsatellite were detected by fluorescent microsatellite microscopy on 2 32 SLE nuclear pedigrees and 10 6 normal controls. Results (1) There was significant difference in the distribution frequencies of Bcl 2 alleles and major genotypes between the two groups (P values were 0 0 0 1 and 0 0 0 3, respectively); (2) Bcl 2 allele was imbalanced , Bcl 2 195bp allele passed from parent to affected offspring (transmission: no transmission = 12 2:82, P = 0 0 0 5 1); (3) susceptibility to both Bcl 2 195bp and IL 10G138bp Individuals with alleles at increased risk of developing disease were more likely to have individuals with Bcl 2 195bp or IL 10G 138bp (odds ratios 300, 1 77, and 107, respectively). Conclusion Bcl 2 gene polymorphism is associated with the pathogenesis of SLE, which may be directly involved in the pathogenesis of SLE or linked to a nearby susceptible locus. Bcl 2 and IL 10 susceptibility alleles have synergistic effects in determining SLE susceptibility.