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Gene. 2013 Nov 1;530(1):100-3. doi: 10.1016/j.gene.2013.08.026. Epub 2013 Aug 22.

Common MEFV gene mutations in Turkish patients with Behcet's disease.

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  • 1Tokat Gaziosmanpasa University, Medical Faculty, Dept. of Internal Medicine, Turkey.


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 MEFV 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 MEFV 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 MEFV mutation was significantly higher in patients with BD compared to the healthy control group. Based on our results, MEFV mutations appear to have a role in the pathogenesis of BD.

© 2013 Elsevier B.V. All rights reserved.


ANOVA; ANalysis Of Variance; BD; Behcet's disease; CI; FMF; Familial Mediterranean Fever; Familial Mediterranean Fever disease; HWE; Hardy‐Weinberg Equilibrium; IL-1b; LD; MEFV; MEFV gene mutation; MEditerranean FeVer gene; OR; PCR; RFLP; TNF receptor-associated periodic syndrome; TRAPS; confidence interval; interleukin-1b; linkage disequilibrium; odds ratio; polymerase chain reaction; restriction fragment length polymorphism

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