白介素-10启动子区域基因变异与中国人群狼疮发病相关  被引量:4

Variations in the IL-10 promoter region confer susceptibility to systemic lupus erythematosus in Chinese population

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作  者:沈南[1] 梁栋[1] 孙莉[1] 周敦[1] 许倩[1] 金燕梁[1] 吴慧[1] 陈顺乐[1] 顾越英[1] 钱捷[1] 王元[1] 

机构地区:[1]上海第二医科大学附属仁济医院风湿病科,200001

出  处:《上海医学》2003年第7期452-459,共8页Shanghai Medical Journal

基  金:国家自然科学基金资助项目 ( 3 0 0 0 0 15 43 0 2 712 2 4);上海市科技发展基金 ( 0 1JC14 0 2 9);霍英东基金会青年教师基金 ( 810 3 0 ) ;863计划 ( 2 0 0 2AA2 2 910 1);上海市科委启明星后计划项目 ( 0 2QMB14 0 4)

摘  要: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 。Objective To confirm whether IL 10 locus is associated/linked with lupus in Chinese population. Methods We performed genotyping for three SNPs and microsatellite markers IL 10G located in IL 10 promoter region in our Chinese lupus cohort (including 200 lupus cases, and 160 lupus simplex families). We processed the genetic analysis by using the transmission disequilibrium test (TDT) combined with a case control approach. Results ① The distribution of IL 10 promoter variations and pairwise linkage disequilibrium in Chinese population were significantly different from other ethnic group. ② A case control association analysis indicated distribution of IL 10G 138 bp allele frequencies in SLE patient group (52%) was significantly different from that of normal controls (42%, P =0.009).③ Single locus TDT analysis confirmed that IL 10G 138bp allele preferentially transmit to affected offspring (trans∶ untrans=94∶61, P =0.0081), and by multi loci. TDT analysis also showed some specific haplotypes (two to four marker) significantly overtransmitted to affected offspring. Conclusion Overall, our data demonstrate that IL 10 gene is a lupus susceptibility locus and suggests tested polymorphisms of IL 10 may be either directly involved in the disease process or linkage disequilibrium with other predisposing SNPs allele.

关 键 词:系统性红斑狼疮 发病机制 诊断 单核苷酸 基因变异 

分 类 号:R593.241[医药卫生—内科学]

 

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