R202Q Mutation of Mediterranean Fever Gene in Iranian patients with Systemic-onset Juvenile Idiopathic Arthritis

Systemic-onset Juvenile Idiopathic Arthritis (SoJIA) is an autoinflammatory disease with complex genetic trait starts in children less than 16 years of age with fever and cutaneous rash. Despite, the main genetic factors that may play a role in SoJIA have not yet been identified. High level of interleukin-1beta in the blood of SoJIA patients has been reported. The production and secretion of IL-1 β is related to pyrin coded by mediterranean fever gene (MEFV gene). Therefore, mutation in MEFV may be associated with SoJIA diseases. This study aimed to identify the association between R202Q mutation in exon 2 of MEFV gene and SoJIA disease. This study was done in 30 SoJIA patients and 30 controls. DNA was extracted from blood cells and analyzed by RFLP-PCR. The PCR product was digested with PvuII and then separated by gel electrophoresis. R202Q mutation was found in 3.3% of control and 43.3% of patient group. Significant statistical differences were observed between cases and controls in the R202Q mutation. The present study showed that the mutation in MEFV gene is a susceptible factor in development of SoJIA disease in Iranian patients.