title: Prevalence and significance of mutations in the familial Mediterranean fever gene in patients with Crohn's disease.
abstract: The concurrence of Crohn's disease (CD) and familial Mediterranean fever was repeatedly reported. In this study we determined the distribution and contribution of MEFV gene mutations to CD susceptibility and clinical heterogeneity. An Israeli cohort of 209 CD patients (120 men and 89 women) was investigated for mutations in the MEFV gene. A detailed chart review, interview and physical examination were used to determine sociodemographic and clinical characteristics. MEFV and NOD2/CARD15 genotypes were analyzed in all patients and a genotype-phenotype correlation analysis was undertaken. The results of this study do not implicate MEFV mutations as major modifiers in CD. However, the E148Q MEFV variant was associated with susceptibility to perianal disease. More specifically, 19% (9/47) of CD patients with perianal disease carried the E148Q mutation compared to 6.7% (11/162) of CD patients without perianal involvement (OR 3.26, 95% CI 1.2-8.8, P=0.02). Although, for all mutations taken together, the prevalence of MEFV gene mutations among CD patients and controls was similar, the hypothesis that E148Q mutation modulates the phenotypic expression of CD is corroborated by the results of this study and needs to be further evaluated.
authors.affiliation: Department of Gastroenterology, Rambam Medical Center, Haifa, Israel.
authors.forename: A
authors.initials: A
authors.lastname: Karban
authors.forename: E
authors.initials: E
authors.lastname: Dagan
authors.forename: R
authors.initials: R
authors.lastname: Eliakim
authors.forename: A
authors.initials: A
authors.lastname: Herman
authors.forename: S
authors.initials: S
authors.lastname: Nesher
authors.forename: B
authors.initials: B
authors.lastname: Weiss
authors.forename: D
authors.initials: D
authors.lastname: Berkowitz
authors.forename: R
authors.initials: R
authors.lastname: Shamir
authors.forename: R
authors.initials: R
authors.lastname: Gershoni-Baruch
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D002648:Child; D015331:Cohort Studies; D003424:Crohn Disease / Q000150:complications / Q000235:genetics*; D003598:Cytoskeletal Proteins; D010505:Familial Mediterranean Fever / Q000150:complications / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D053473:Nod2 Signaling Adaptor Protein; D010641:Phenotype; D017354:Point Mutation; D015995:Prevalence; D011506:Proteins / Q000235:genetics*; D000071198:Pyrin
chemical_list: D003598:Cytoskeletal Proteins; D047908:Intracellular Signaling Peptides and Proteins; C000604192:MEFV protein, human; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein; D011506:Proteins; D000071198:Pyrin