MEFV mutation frequencies in a Turkish cohort with low prevalence of familial Mediterranean fever

Cakir, Necati; Ustek, Duran; uysal, ömer; Gozke, Eren; Azaklı, Hülya

doi:10.3906/sag-2009-119

MEFV mutation frequencies in a Turkish cohort with low prevalence of familial Mediterranean fever

Necati ÇAKIR, (İstanbul Medeniyet Üniversitesi, Tıp Fakültesi, İç Hastalıkları Anabilim Dalı, İstanbul, Türkiye)

Hülya AZAKLI, (İstanbul Üniversitesi, Deneysel Tıp Enstitüsü, Genetik Anabilim Dalı, İstanbul, Türkiye)

Duran ÜSTEK, (İstanbul Üniversitesi, Deneysel Tıp Enstitüsü, Genetik Anabilim Dalı, İstanbul, Türkiye)

Ömer UYSAL, (Bezmialem Vakıf Üniversitesi, İstatistik Bölümü, İstanbul, Türkiye)

Eren GÖZKE (Sağlık Bilimleri Üniversitesi, Fatih Sultan Mehmet Eğitim ve Araştırma Hastanesi, Nöroloji Anabilim Dalı, İstanbul, Türkiye)

Turkish Journal of Medical Sciences

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Yıl: 2021 Cilt: 51 Sayı: 4 Sayfa Aralığı: 1702 - 1705 Metin Dili: İngilizce DOI: 10.3906/sag-2009-119 İndeks Tarihi: 11-01-2022

MEFV mutation frequencies in a Turkish cohort with low prevalence of familial Mediterranean fever

Öz:

Background/aim: Familial 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 methods: The 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. Results: In 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. Conclusion: These data suggest that the positivity of the MEFV gene mutation tests have lower predictive value in a population with low FMF prevalence.Key words: Familial Mediterranean fever, mutations, MEFV gene

Anahtar Kelime:

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık

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APA	Cakir N, Azaklı H, Ustek D, uysal ö, Gozke E (2021). MEFV mutation frequencies in a Turkish cohort with low prevalence of familial Mediterranean fever. , 1702 - 1705. 10.3906/sag-2009-119
Chicago	Cakir Necati,Azaklı Hülya,Ustek Duran,uysal ömer,Gozke Eren MEFV mutation frequencies in a Turkish cohort with low prevalence of familial Mediterranean fever. (2021): 1702 - 1705. 10.3906/sag-2009-119
MLA	Cakir Necati,Azaklı Hülya,Ustek Duran,uysal ömer,Gozke Eren MEFV mutation frequencies in a Turkish cohort with low prevalence of familial Mediterranean fever. , 2021, ss.1702 - 1705. 10.3906/sag-2009-119
AMA	Cakir N,Azaklı H,Ustek D,uysal ö,Gozke E MEFV mutation frequencies in a Turkish cohort with low prevalence of familial Mediterranean fever. . 2021; 1702 - 1705. 10.3906/sag-2009-119
Vancouver	Cakir N,Azaklı H,Ustek D,uysal ö,Gozke E MEFV mutation frequencies in a Turkish cohort with low prevalence of familial Mediterranean fever. . 2021; 1702 - 1705. 10.3906/sag-2009-119
IEEE	Cakir N,Azaklı H,Ustek D,uysal ö,Gozke E "MEFV mutation frequencies in a Turkish cohort with low prevalence of familial Mediterranean fever." , ss.1702 - 1705, 2021. 10.3906/sag-2009-119
ISNAD	Cakir, Necati vd. "MEFV mutation frequencies in a Turkish cohort with low prevalence of familial Mediterranean fever". (2021), 1702-1705. https://doi.org/10.3906/sag-2009-119

APA	Cakir N, Azaklı H, Ustek D, uysal ö, Gozke E (2021). MEFV mutation frequencies in a Turkish cohort with low prevalence of familial Mediterranean fever. Turkish Journal of Medical Sciences, 51(4), 1702 - 1705. 10.3906/sag-2009-119
Chicago	Cakir Necati,Azaklı Hülya,Ustek Duran,uysal ömer,Gozke Eren MEFV mutation frequencies in a Turkish cohort with low prevalence of familial Mediterranean fever. Turkish Journal of Medical Sciences 51, no.4 (2021): 1702 - 1705. 10.3906/sag-2009-119
MLA	Cakir Necati,Azaklı Hülya,Ustek Duran,uysal ömer,Gozke Eren MEFV mutation frequencies in a Turkish cohort with low prevalence of familial Mediterranean fever. Turkish Journal of Medical Sciences, vol.51, no.4, 2021, ss.1702 - 1705. 10.3906/sag-2009-119
AMA	Cakir N,Azaklı H,Ustek D,uysal ö,Gozke E MEFV mutation frequencies in a Turkish cohort with low prevalence of familial Mediterranean fever. Turkish Journal of Medical Sciences. 2021; 51(4): 1702 - 1705. 10.3906/sag-2009-119
Vancouver	Cakir N,Azaklı H,Ustek D,uysal ö,Gozke E MEFV mutation frequencies in a Turkish cohort with low prevalence of familial Mediterranean fever. Turkish Journal of Medical Sciences. 2021; 51(4): 1702 - 1705. 10.3906/sag-2009-119
IEEE	Cakir N,Azaklı H,Ustek D,uysal ö,Gozke E "MEFV mutation frequencies in a Turkish cohort with low prevalence of familial Mediterranean fever." Turkish Journal of Medical Sciences, 51, ss.1702 - 1705, 2021. 10.3906/sag-2009-119
ISNAD	Cakir, Necati vd. "MEFV mutation frequencies in a Turkish cohort with low prevalence of familial Mediterranean fever". Turkish Journal of Medical Sciences 51/4 (2021), 1702-1705. https://doi.org/10.3906/sag-2009-119