染色体1q23.2区域存在与中国人群系统性红斑狼疮发病相关基因位点

目的：明确中国人群中Bcl-2基因多态是否与系统性红斑狼疮（SLE）相关,检测Bcl-2与IL－10易感等位基因是否存在协同作用。方法：通过荧光标记微卫星分型技术对232个SLE核心家系及106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0．001和0．003）;（2）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0．001和0．003）;（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＝122：82,P＝0．0051）;（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3．00,1．77和1．07。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。

Association between Bcl-2 gene polymorphism with systemic lupus erythematosus

Objective To study the association between bcl 2 gene polymorphism and systemic lupus erythematosus (SLE) in Chinese and detect the synergism between IL 10 and bcl 2 genotypes in determining susceptibility to SLE. Methods The peripheral white blood cells from 232 nucler families of SLE and 106 ethnically matched normal controls were collected and the DNA extracted. The allelic distribution of one microsatellite located in Bcl 2 gene was determined by using fluorescent labeled primer and genotying method. Results (1) The distribution frequency of Bcl 2 alleles and its major genotypes were significantly different between SLE group and normal controls( P =0.001 and 0.0029 respectively). (2) Transmission disequilibrium existed in Bcl 2 alleles. Bcl 2 195 bp allele was preferentially transmitted to affected offspring (t: non t =122:82, P =0.0051) by TDT approach. Individuals carrying specific genotypes with both Bcl 2 195 bp allele and IL 10G138 bp allele were at higher risk of developing SLE than those carrying only Bcl 2 195 bp allele or IL 10G138 bp allele ( OR =3.00,1.77,1.07 respectively). Conclusion Bcl 2 gene polymorphism is associated with SLE and may be directly involved in the process of SLE or in linkage disequilibrium with some susceptibility loci nearby. Synergistic effect may exist between IL 10 and bcl 2 genotypes in determining susceptibility to SLE.