title: The familial Mediterranean fever (MEVF) gene as a modifier of Crohn's disease.
abstract: OBJECTIVE
  Crohn's disease (CD) has been reported to be more frequent among non-Ashkenazi Jewish patients suffering from familial Mediterranean fever (FMF). Interestingly, functional similarities between the CD susceptibility gene (NOD2/CARD15) and the FMF gene (MEFV) have been described: both belong to the death domain containing protein family, important in the regulation of apoptosis, cytokine processing and inflammation.
  
  
  OBJECTIVE
  To investigate the prevalence of MEFV mutations in Jewish non-Ashkenazi CD patients and its putative effect on CD presentation.
  
  
  METHODS
  Germline DNA of 105 Israeli CD patients of non-Ashkenazi and mixed Ashkenazi-non-Ashkenazi ethnic background was analyzed for three most common MEFV mutations: M694V, V726A, and E148Q. Five patients (4.7%) with a clinical diagnosis of FMF were included. Data obtained from each patient included: age of onset, disease location, and behavior, the presence of extraintestinal manifestations of CD and therapeutic regimens.
  
  
  RESULTS
  The overall prevalence of mutation carriers among non-FMF-CD patients was 13% (13/100). A stricturing disease pattern was observed in 56% (10/18) of all carriers, FMF-CD, and non-FMF-CD patients, and in 25% (22/87) of noncarriers (OR: 3.7, 95% CI: 1.3-10.5, p= 0.015). The prevalence of fistulas was comparable in both groups. Extraintestinal manifestations were significantly more frequent among carriers than noncarriers (65%vs 32%, OR 3.9, 95% CI = 1.3-11.5, p= 0.015). No differences were observed in disease location and disease severity.
  
  
  CONCLUSIONS
  MEFV mutations are not associated with CD susceptibility, yet the presence of these mutations appears to be associated with a stricturing disease pattern and extraintestinal disease manifestations of CD.
authors.affiliation: Department of Gastroenterology and The Heller Institute of Medical Research, Chaim Sheba Medical Center, Tel Hashomer, Israel.
authors.forename: Herma
authors.initials: H
authors.lastname: Fidder
authors.forename: Yehuda
authors.initials: Y
authors.lastname: Chowers
authors.forename: Zvi
authors.initials: Z
authors.lastname: Ackerman
authors.forename: Rivka Dresner
authors.initials: RD
authors.lastname: Pollak
authors.forename: J Bart A
authors.initials: JB
authors.lastname: Crusius
authors.forename: Avi
authors.initials: A
authors.lastname: Livneh
authors.forename: Simon
authors.initials: S
authors.lastname: Bar-Meir
authors.forename: Benjamin
authors.initials: B
authors.lastname: Avidan
authors.forename: Yael
authors.initials: Y
authors.lastname: Shinhar
mesh_terms: D000328:Adult; D003424:Crohn Disease / Q000150:complications / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D003598:Cytoskeletal Proteins; D010505:Familial Mediterranean Fever / Q000150:complications / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007585:Jews; D008297:Male; D009154:Mutation; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D000071198:Pyrin
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D011506:Proteins; D000071198:Pyrin