Common <i>MEFV</i> gene mutations in Turkish patients with Behcet's disease


Tasliyurt T., YİĞİT S., Rustemoglu A., Gul U., Ates O.

GENE, no.1, pp.100-103, 2013 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Publication Date: 2013
  • Doi Number: 10.1016/j.gene.2013.08.026
  • Journal Name: GENE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.100-103
  • Keywords: Behcet's disease, Familial Mediterranean Fever, MEFV gene mutation
  • Ondokuz Mayıs University Affiliated: No

Abstract

Behcet's disease (BD) is a chronic systemic inflammatory disorder whose etiology has not been fully established yet. The MEditerranean FeVer (MEFV) gene has been identified as the cause of Familial Mediterranean Fever (FMF). BD shows similarities with FMF, in terms of clinical findings and treatments, as well as their geographical and ethnic co-occurrence. In this study we investigated common MEW gene mutation frequencies in Turkish patients with BD in an area of Turkey where both diseases are frequently encountered. We screened 207 BD patients who had no symptoms and family history for FMF and 200 healthy subjects for five common MEW gene mutations (E148Q M680I, M694V, V726A, P369S) and clinical features. Seventy-five patients were found to carry a single MEFV mutation, and six patients were compound heterozygous. The difference in the frequency of the MEFV mutation between the BD and control groups was statistically significant (p < 0.001, odds ratio [OR] 2.74,95% confidence interval [CI] 1.75-4.29). The frequencies of E148Q and M680I mutations were significantly higher in the BD group (p = 0.001, p = 0.046, respectively). The frequency of uveitis was significantly lower in patients with the mutation than in patients without the mutation (p = 0.029, OR 0.54, 95% CI 0.30-0.98). There was no statistical significance between carriers and non-carriers with respect to gender and other manifestations of BD. The frequency of the MEW mutation was significantly higher in patients with BD compared to the healthy control group. Based on our results, MEW mutations appear to have a role in the pathogenesis of BD. (C) 2013 Elsevier B.V. All rights reserved.