Objective: Behçet's disease (BD) is an inflammatory disorder of unknown cause with higher prevalence along the ancient Silk Road. BD shares epidemiological and clinical features with familial Mediterranean fever (FMF). Moreover, association of BD and certain MEFV gene mutations has been described in recent decades. We studied the role of MEFV mutations in Iranian Azeri Turkish patients with BD.
Methods: Fifty-three BD patients who met the International Study Group criteria for BD were analysed for five common MEFV mutations (M694V, V726A, M680I, M694I, and E148Q) using amplification refractory mutation system and polymerase chain reaction (PCR) restriction-digestion testing methods. A cohort of 200 healthy Azeri Turkish individuals who had been previously genotyped regarding the five common MEFV mutations served as the control group.
Results: Eighteen patients were found to carry a single MEFV mutation and one additional patient was compound heterozygote. There was a statistically significant difference between the patient group and ethnically matched healthy individuals regarding M694V and M680I mutations (p = 0.01 and p = 0.04, respectively). Both BD groups (carriers and non-carriers of MEFV mutations) were similar in their clinical symptoms.
Conclusion: Definite MEFV mutations seem to be a susceptibility factor for BD in our cohort of Iranian Azeri Turkish patients.