MEFV mutation frequencies in a Turkish cohort with low prevalence of familial Mediterranean fever |
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| Authors: | Necati Ç AKIR,Hü lya AZAKLI,Duran Ü STEK,Ö mer UYSAL,Eren GÖ ZKE |
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| Affiliation: | 1. Department of Internal Medicine, Faculty of Medicine, Istanbul Medeniyet University, İstanbul, Turkey ; 2. Department of Genetics, Institute for Experimental Medicine, İstanbul University, İstanbul, Turkey ; 3. Department of Statistics, Bezmialem Vakıf University, İstanbul, Turkey ; 4. Department of Neurology, Fatih Sultan Mehmet Teaching and Research Hospital, University of Health Sciences, İstanbul, Turkey |
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| Abstract: | Background/aimFamilial Mediterranean fever (FMF) is a genetically recessive autoinflammatory disease caused by mutations in the Mediterranean fever (MEFV) gene. The aim of this study was to investigate the frequencies of the most common MEFV mutations among a sample of healthy individuals from the Havsa population of European Turkey, where FMF is less prevalent compared to Asian Turkey.Materials and methodsThe study group consisted of 263 unrelated healthy adults. All of the participants were analyzed for the M694V, V726A, M680I, and E148Q mutations in the MEFV gene.ResultsIn total, 25 of the 263 individuals carried MEFV mutations (9.5%). The observed allele frequencies were 1.5% for M694V (95% confidence interval [CI] 0.5-2.5), 2.6% for E148Q (95% CI 1.6-3.9), 0.5% for M680I (95% CI 0.0-1.1), and 0.0% for V726A. The frequencies of the M694V, M680I, and E148Q mutations were not significantly different from allele frequencies (approximately 20%) determined for other regions of Turkey where FMF is more prevalent.ConclusionThese data suggest that the positivity of the MEFV gene mutation tests have lower predictive value in a population with low FMF prevalence. |
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| Keywords: | Familial Mediterranean fever mutations MEFV gene |
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