MEFV Common mutations detection in Iranian Azeri Turk patients with Ulcerative colitis: A case -control study

Abstract

Background Ulcerative colitis and Crohn's disease constitute the two major forms of chronic inflammatory bowel diseases with unknown etiology. It is suggested that genetic background and environmental factors are important factors in the diseases susceptibility and patient's response to therapy. Familial Mediterranean fever is an auto-inflammatory disease mainly inherited as an autosomal recessive condition. Since there are similarities between FMF and IBD, the responsible gene for FMF (MEFV) has been introduced as a modifier gene for IBD. Study: This case -control study was conducted in a setting of 139 unrelated patients referred with UC compatible symptoms and 200 matched controls without any positive familial history of Behcet syndrome, FMF or IBD in Azerbaijan during 2008-2010.They were screened for the five most common MEFV mutations (E148Q, V726A, M680I, M694I, and M694V) applying PCR-RFLP and ARMS-PCR techniques. All cases, being of Azeri Turk origin were matched in terms of age, sex and race. Results Thirty one (22.3%) patients and 52 (26%) control individuals carried one of the studied mutations. All studied types of MEFV mutations except for M694I and V726A could be detected in the patients. However, E148Q and V726A mutations were only observed in the control group. E148Q was the most frequent mutation observed in this cohort. There was a significant difference between the two groups regarding M694V mutation (p=0.002). Conclusion Although the correlation between M694V mutation and UC seems to be significant among the Iranian Azeri Turk patients, studies on a large number of UC and control series and also on further MEFV mutations are required to determine the role of MEFV mutations in UC.