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An Analysis on Pyrin E148Q Mutations in Patients with Refractory Rheumatoid Arthritis

Abbas Mirzaei, Sousan Kolahi, Arash Ahmadi, Mohammadreza Nakhjavani and Maryam Pashaiasl

Objective: Rheumatoid arthritis (RA) is an autoimmune disease with lifelong disability in adults. Given the high prevalence of Mediterranean fever and its overlapping and modulatory effects on autoimmune diseases, we analyzed molecular mutation in exon 2 of MEFV gene in patients with refractory RA and healthy subjects as a control group.
Methods: Thirty four patients with refractory RA and fifty healthy controls were conducted in this study and their DNA samples were analyzed. We studied the most common exon 2 variation on MEFV gene which known as E148Q. At the end of this study, we compared the results of both groups.
Results: The mean age of patients with refractory RA were 43.8 ± 7.7 years and disease duration was 49.8 ± 7.36 months. The mean of DAS 28 (Disease Activity score) of patients with refractory RA was 4.2 ± 0.51. The mean ages of healthy control cases were 45.4 ± 8.27 years. The mutation frequency of exon 2 MEFV variant was 6 (17.6%) of 34 and 5 (10%) of 50 in the refractory RA patients and healthy subjects, respectively. According to results no significant difference were observed between two groups (P=0.405).
Conclusion: Overall mutation rate of E148Q gene has not increased in patients with refractory rheumatoid arthritis and this mutation possibly has no effect on disease severity.