Department of Physical Therapy and Rehabilitation, Faculty of Medicine, Gaziosmanpasa University, Tokat, Turkey.
J Investig Med. 2013 Mar;61(3):593-6. doi: 10.2310/JIM.0b013e318280a96e.
Rheumatoid arthritis (RA) is a systemic autoimmune disease primarily affecting the joints. Arthritis disorders are associated with mutations of the Mediterranean fever (MEFV) gene. This gene has already been identified as being responsible for familial Mediterranean fever. The aim of this study was to explore the frequency and clinical significance of MEFV gene mutations in a cohort of Turkish patients with RA.
The study included 101 patients with RA and 110 healthy controls. Genomic DNA was isolated and genotyped using polymerase chain reaction and restriction fragment length polymorphism for the 5 MEFV gene mutations (M694V, M680I, V726A, E148Q, and P369S).
Carrier rates of MEFV gene mutations were 31 (30.7%) of 101 and 26 (23.6%) of 110 in the RA and healthy control groups, respectively (P > 0.05; odds ratio, 1.4; 95% CI, 0.77-2.65). Whereas deformed joint count was relatively higher in the mutation carrier group than those of the noncarrier group, the rheumatoid factor levels were significantly higher in the carrier group of patients with RA (P = 0.001).
The results of this study suggest that MEFV gene mutations are not positively associated with a predisposition to develop RA but might increase the severity of RA. Further research is needed to determine the actual pathogenic role of MEFV mutations in this disease.
类风湿关节炎（RA）是一种主要影响关节的系统性自身免疫性疾病。关节炎疾病与地中海热（MEFV）基因突变有关。该基因已被确定为家族性地中海热的致病基因。本研究旨在探讨 MEFV 基因突变在土耳其 RA 患者队列中的频率及其临床意义。
本研究纳入了 101 例 RA 患者和 110 名健康对照者。采用聚合酶链反应和限制性片段长度多态性分析方法，对 5 个 MEFV 基因突变（M694V、M680I、V726A、E148Q 和 P369S）进行基因分型。
RA 组和健康对照组中 MEFV 基因突变携带者率分别为 31（30.7%）和 26（23.6%）（P>0.05；比值比，1.4；95%可信区间，0.77-2.65）。突变携带者组的畸形关节计数相对较高，而 RA 患者突变携带者组的类风湿因子水平显著高于非携带者组（P=0.001）。
本研究结果表明，MEFV 基因突变与易患 RA 无关，但可能增加 RA 的严重程度。需要进一步研究以确定 MEFV 突变在该疾病中的实际致病作用。
