CTLA-4单核苷酸多态性与中国汉族人类风湿关节炎的关联分析  

Association between single nucleotide polymorphism in cytotoxic T lymphocyte-associated antigen 4 gene and rheumatoid arthritis in Chinese Han nationality

作　　者：施冶青[1] 蔡雷[2] 韩星海[1] 张冬青[3] 陈丽珊[2] 金建中[2] 钱杰[2] 杜芳[3] 

机构地区：[1]第二军医大学附属长海医院风湿免疫科,上海200433 [2]复旦大学生命科学院遗传学研究所 [3]上海第二医科大学上海市免疫学研究所

出　　处：《中华风湿病学杂志》2007年第2期78-81,共4页Chinese Journal of Rheumatology

摘　　要：目的在中国汉族类风湿关节炎（RA）患者中，检测细胞毒T淋巴细胞相关抗原4（CTLA-4）基因中的单核苷酸多态性（SNPs）并进行关联分析。方法用变性梯度凝胶电泳法（DGGE）在326例RA患者和250名健康志愿者提供的血样中检测CTLA-4基因的SNPs（MH30，＋49，CT60和J031）．分析单个位点的等位基因和基因型频率是否与RA相关。结果在RA患者中，CTLA-4的＋49和CT60的等位基因频率及它们的基因型频率显著高于健康对照组（P=0.028和0．007）；此两种SNPs构成的4种单倍体的分布状态两组间差异有统计学意义（x^2=10．58，d．f=3，P=-0．014）。结论CTLA-4基因上2个SNPs及单倍体型与中国汉族RA之间存在显著的相关性。Objective To examine the single nucleotide polymorphisms （SNPs） in cytotoxic T lympho- cyte-associated antigen 4 （CTLA-4） gene in Chinese Han nationality with rheumatoid arthritis （RA）. Methods The denaturing gradient gel electrophoresis （DGGE） was used to genotype the polymorphisms of four SNPs （MH30,＋49, CT60 and JO31） of the CTLA-4 gene in 326 RA patients and 250 healthy controls. Furthermore, meta-analysis of all availab｜e studies relating 4-49 polymorphism to the risk of RA was performed to confirm the disease association. Results Among the SNPs examined, the genotype frequencies of CTLA-4 ＋49 and CT60 in RA patients differed significantly from controls （P=0.028 and 0.007）. In addition, the distribution of the four haplotypes constructed by these two SNPs was significantly different between patients and controls （x^2=10.58,d.f=3,P=-0.014）. Conclusion These results suggest that the CTLA-4 gene may be involved in the susceptibility to RA in Chinese Han nationality and both ＋49 and CT60 of CTLA-4 gene may be the causal variants in RA.

关 键 词：关节炎 类风湿 T淋巴细胞 细胞毒性 多态性 单核苷酸 因素分析 统计学 

分 类 号：R686[医药卫生—骨科学]