Palomino-Morales R J, Rojas-Villarraga A, González C I, Ramírez G, Anaya J-M, Martín J
Instituto de Biomedicina López-Neyra, Consejo Superior de Investigaciones Científicas, Granada, Spain.
Genes Immun. 2008 Jun;9(4):379-82. doi: 10.1038/gene.2008.30. Epub 2008 Apr 24.
The aim of this study was to determine the influence of STAT4 (rs7574865) and TRAF1/C5 (rs10818488 and rs2900180) gene polymorphisms on the risk of developing rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) in a Colombian population. This was a case-control study in which 839 individuals with RA (N=274) and SLE (N=144) and matched healthy controls (N=421) were included. Genotyping was performed by using a polymerase chain reaction system with pre-developed TaqMan allelic discrimination assay. STAT4 rs7574865T allele disclosed a significant influence on the risk of developing SLE (P=0.0005; OR 1.62, 95% CI 1.22-2.16) and RA (P=0.008; OR 1.36; 95% CI 1.08-1.71), whereas no effect on these autoimmune diseases was observed for the TRAF1/C5 polymorphisms examined. Our data strengthen STAT4 rs7574865 polymorphism as a susceptibility factor for RA and SLE and provide further evidence for a common origin of autoimmune diseases.
本研究旨在确定STAT4(rs7574865)和TRAF1/C5(rs10818488和rs2900180)基因多态性对哥伦比亚人群患类风湿性关节炎(RA)和系统性红斑狼疮(SLE)风险的影响。这是一项病例对照研究,纳入了839名患有RA(n = 274)和SLE(n = 144)的个体以及相匹配的健康对照者(n = 421)。基因分型采用聚合酶链反应系统及预先开发的TaqMan等位基因鉴别分析进行。STAT4 rs7574865 T等位基因对患SLE的风险(P = 0.0005;比值比1.62,95%置信区间1.22 - 2.16)和RA的风险(P = 0.008;比值比1.36;95%置信区间1.08 - 1.71)有显著影响,而所检测的TRAF1/C5基因多态性对这些自身免疫性疾病没有影响。我们的数据强化了STAT4 rs7574865多态性作为RA和SLE易感性因素的作用,并为自身免疫性疾病的共同起源提供了进一步证据。