title: Common MEFV mutations in Iranian Azeri Turkish patients with Behçet's disease.
abstract: 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.
  
  
  CONCLUSIONS
  Definite MEFV mutations seem to be a susceptibility factor for BD in our cohort of Iranian Azeri Turkish patients.
authors.affiliation: Liver and Gastrointestinal Disease Research Centre, Drug Applied Research Centre, Tabriz University of Medical Sciences, Tabriz, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Esmaeili
authors.forename: M
authors.initials: M
authors.lastname: Bonyadi
authors.forename: A
authors.initials: A
authors.lastname: Khabbazi
authors.forename: A A
authors.initials: AA
authors.lastname: Ebrahimi
authors.forename: S-K
authors.initials: SK
authors.lastname: Sharif
authors.forename: M
authors.initials: M
authors.lastname: Hajialilo
authors.forename: S
authors.initials: S
authors.lastname: Kolahi
authors.forename: S
authors.initials: S
authors.lastname: Dastgiri
mesh_terms: D000293:Adolescent; D000328:Adult; D001528:Behcet Syndrome / Q000453:epidemiology / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics / Q000706:statistics & numerical data; D010505:Familial Mediterranean Fever / Q000453:epidemiology / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D006579:Heterozygote; D006801:Humans; D007492:Iran; D008297:Male; D008875:Middle Aged; D009154:Mutation; D015995:Prevalence; D000071198:Pyrin; D014421:Turkey / Q000208:ethnology; D055815:Young Adult
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin