Purpose: 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.
Methods: 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).
Results: 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).
Conclusions: 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.