1. ¹Department of Gastroenterology, Rambam Medical Center, Haifa, Israel
2. ²Institute of Human Genetics, Rambam Medical Center, Haifa, Israel
3. ³Department of Nursing, Faculty of Welfare and Health Studies, University of Haifa, Israel
4. ⁴Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel
5. ⁵Division of Pediatric, Gastroenterology, Safra Hospital, Ramat-Gan, Israel
6. ⁶Department of Pediatric, Gastroenterology and Nutrition, Meyer Children's Hospital, Rambam Medical Center, Haifa, Israel

Correspondence: Dr R Gershoni-Baruch, Department of Medical Genetics, Rambam Medical Center, Haifa 31096, Israel. E-mail: rgershoni@rambam.health.gov.il

Received 27 July 2004; Revised 6 November 2004; Accepted 7 November 2004; Published online 23 December 2004.

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.