MEFV Common mu
MEFV Common mutations detection in Iranian
Azeri Turk patients with Ulcerative colitis: a case –control study
Mohammad Hossein
Somi1, Morteza Jabbarpour Bonyadi2, Seyyed Kazem
Mirinezhad1, Mohsen Esmaeili3, Negar Laghaeian4, Masood
Faghihdinevari1, Maryam Soleimanpour1*
1- MD, Liver
& Gastrointestinal Disease Research Center of Tabriz University of Medical
Sciences, Iran.
2- PhD, Center
of Excellence for Biodiversity, Faculty of Natural Sciences, University of
Tabriz, Iran.
3- PhD, Liver
& Gastrointestinal Disease Research Center of Tabriz University of Medical
Sciences, Iran.
4-
BS, Liver & Gastrointestinal Disease Research Center of Tabriz University
of Medical Sciences, Iran.
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. ResultsThirty 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.
[Somi MH, Jabbarpour Bonyadi M, Mirinezhad
SM, Esmaeili M, Laghaeian N, Faghihdinevari M, Soleimanpour M.
MEFV Common mutations detection in Iranian Azeri Turk patients with Ulcerative
colitis: a case –control study. Life
Sci J2013;10(4s):149-152] (ISSN:1097-8135). http://www.lifesciencesite.com. 22
Keywords: Ulcerative colitis, MEFV gene, Iranian
Azeri Turkish patients, mutations
