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Prevalence and significance of mutations in the familial Mediterranean fever gene in patients with Crohn's disease

Genes & Immunity volume 6, pages 134–139 (2005)Cite this article

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.

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Authors and Affiliations

  1. Department of Gastroenterology, Rambam Medical Center, Haifa, Israel

    A Karban, R Eliakim & S Nesher

  2. Institute of Human Genetics, Rambam Medical Center, Haifa, Israel

    E Dagan, A Herman & R Gershoni-Baruch

  3. Department of Nursing, Faculty of Welfare and Health Studies, University of Haifa, Israel

    E Dagan

  4. Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel

    R Eliakim, R Shamir & R Gershoni-Baruch

  5. Division of Pediatric, Gastroenterology, Safra Hospital, Ramat-Gan, Israel

    B Weiss

  6. Department of Pediatric, Gastroenterology and Nutrition, Meyer Children's Hospital, Rambam Medical Center, Haifa, Israel

    D Berkowitz & R Shamir

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  1. A Karban
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Correspondence to R Gershoni-Baruch.

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Karban, A., Dagan, E., Eliakim, R. et al. Prevalence and significance of mutations in the familial Mediterranean fever gene in patients with Crohn's disease. Genes Immun 6, 134–139 (2005). https://doi.org/10.1038/sj.gene.6364156

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  • DOI: https://doi.org/10.1038/sj.gene.6364156

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