Suppiah V, O'Doherty C, Heggarty S, Patterson C C, Rooney M, Vandenbroeck K
Applied Genomics Research Group, School of Pharmacy, McClay Research Centre, The Queen's University of Belfast, Belfast BT9 7BL, Northern Ireland, UK.
Exp Mol Pathol. 2006 Apr;80(2):141-6. doi: 10.1016/j.yexmp.2005.09.004. Epub 2005 Oct 24.
Rheumatoid and juvenile idiopathic arthritis (RA, JIA) are chronic inflammatory arthropathies with an autoimmune background. The cytotoxic T-lymphocyte antigen-4 (CTLA-4) protein plays a key role in the down-regulation of T cell activation. We analyzed the CTLA4 +49A/G and CT60 polymorphisms in cohorts of Northern Irish RA and JIA patients and healthy control subjects using restriction fragment length polymorphism methods. The +49 A allele was increased in RA (61.2%; P=0.02; OR=1.28; 95% C.I.=1.04-1.58) and JIA (61.8%; P=0.14) patients compared to the control population (55.3%). No significant association was observed for the CT60 polymorphism. Haplotype analysis revealed a significantly different distribution of +49 A/G-CT60 haplotypes in RA and JIA patients compared to controls (P value<0.00001 and 0.030 for comparison of RA and JIA patients with controls, respectively). Our results suggest that the CTLA-4 gene is involved in predisposition to inflammatory arthropathies in the Northern Irish population.
类风湿性关节炎和青少年特发性关节炎（RA，JIA）是具有自身免疫背景的慢性炎症性关节病。细胞毒性T淋巴细胞抗原4（CTLA-4）蛋白在T细胞活化的下调中起关键作用。我们使用限制性片段长度多态性方法分析了北爱尔兰RA和JIA患者队列以及健康对照受试者中的CTLA4 +49A/G和CT60多态性。与对照人群（55.3%）相比，RA患者（61.2%；P=0.02；OR=1.28；95%置信区间=1.04-1.58）和JIA患者（61.8%；P=0.14）中+49 A等位基因增加。未观察到CT6C多态性有显著关联。单倍型分析显示，与对照组相比，RA和JIA患者中+49 A/G-CT60单倍型的分布有显著差异（RA和JIA患者与对照组比较的P值分别<0.00001和0.030）。我们的结果表明，CTLA-4基因参与了北爱尔兰人群炎症性关节病的易感性。
