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目的 采用连锁不平衡方法在中国汉族人群中验证白介素 (IL) 10基因是否与系统性红斑狼疮 (SLE)存在显著相关性。方法 在中国汉族人群中 ,对IL 10启动子区内的 3个单核苷酸 (SNP)位点和IL 10G微卫星标记进行分型 ,并采用病例对照结合传递不平衡检验 (TDT)方法分析分型结果。结果 ①中国汉族人群与其他人群的IL 10启动子区内的遗传标记多态性分布及配对连锁不平衡检验的差异有显著性。②病例对照研究发现 ,SLE患者IL 10G138等位基因频率(5 2 % )较正常对照组 (4 2 % )显著增高 (P =0 .0 0 9) ;类风湿性关节炎 (RA)患者IL 10G136等位基因频率和IL 10G14 4等位基因频率均较正常对照组显著增高 (P值分别为 0 .0 0 0 2和 0 .0 0 3)。③单位点的TDT检测发现 ,IL 10G138bp从父母优势传递给患病后代 (传递∶不传递 =94∶6 1,P =0 .0 0 81) ;多位点的TDT检测发现 ,某些特定的单倍型从父母优势传递给患病后代。结论 本研究显示IL 10基因是SLE的易感位点 ,IL 10基因的多态性标记或者直接参与SLE的发病过程 ,或者与某个其他致病的SNP位点存在连锁不平衡
Objective To determine whether interleukin (IL) 10 gene is significantly associated with systemic lupus erythematosus (SLE) by linkage disequilibrium in Chinese Han population. Methods Three single nucleotide (SNP) sites and IL 10G microsatellite markers in the IL 10 promoter region were genotyped in Chinese Han population and analyzed by case control and transmission disequilibrium test (TDT) Typing results. Results ① There was a significant difference in the distribution of genetic markers and the linkage disequilibrium test in the IL 10 promoter between Chinese Han population and other populations. ② The case-control study found that the frequency of IL 10G138 alleles in SLE patients (52%) was significantly higher than that in the normal controls (42%) (P = 0.090), and that in patients with rheumatoid arthritis (RA) The frequencies of 10G136 allele and IL 10G14 4 allele were significantly higher than those in the normal control group (P = 0.0002 and 0.030, respectively). (3) TDT test showed that IL 10G138bp was passed from parents to diseased offspring (transmission: no transmission = 94: 6 1, P = 0.0801). The multi-locus TDT test found that some specific Haplotypes pass from parental advantage to sick offspring. Conclusions This study shows that IL 10 is a susceptible site of SLE. Polymorphic markers of IL 10 gene are either directly involved in the pathogenesis of SLE or have a linkage disequilibrium with some other pathogenic SNP loci