The distribution of MEFV mutations in Turkish FMF patients: Multicenter study representing results of Anatolia

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dc.authorid0000-0002-0783-1072
dc.authorid0000-0001-7737-4180
dc.authorid0000-0002-9035-689X
dc.authorid0000-0001-9311-8179
dc.authorid0000-0001-5184-4404
dc.authorid0000-0002-1730-2991
dc.contributor.authorBilge, N. Şule Yaşar
dc.contributor.authorSarı, İsmail
dc.contributor.authorSolmaz, Dilek
dc.contributor.authorŞenel, Soner
dc.contributor.authorEmmungil, Hakan
dc.contributor.authorBes, Cemal
dc.date.accessioned2021-06-23T18:40:29Z
dc.date.available2021-06-23T18:40:29Z
dc.date.issued2019
dc.departmentBAİBÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractBackground/aim: The distribution of Mediterranean fever (MEFV) gene mutations in Turkish familial Mediterranean fever (FMF) patients varies according to geographic area of Turkey. There is a need for highly representative data for Turkish FMF patients. The aim of our study was to investigate the distribution of the common MEFV mutations in Turkish FMF patients in a nationwide, multicenter study. Materials and methods: Data of the 2246 FMF patients, from 15 adult rheumatology clinics located in different parts of the country, were evaluated retrospectively. The following mutations have been tested in all patients: M694V, M680I, M694I, V726A, and E148Q. Results: There were 1719 FMF patients with available genetic testing. According to the genotyping, homozygous M694V, present in 413 patients (24%), was the most common mutation . One hundred and fifty-four (9%) of patients had no detectable mutations. Allele frequencies of common mutations were: M694V (n = 1529, 44.5%), M680I (n = 423, 12.3%), V726A (n = 315, 9.2%), E148Q (n = 214, 1%), and M694I (n = 12, <1%). Conclusion: In this large-scale multicenter study, we provided information about the frequencies of common MEFV gene mutations obtained from adult Turkish FMF patients. Nearly half of the patients were carrying at least one M694V mutations in their alleles.en_US
dc.identifier.endpage477en_US
dc.identifier.issn1300-0144
dc.identifier.issn1303-6165
dc.identifier.issue2en_US
dc.identifier.pmid30887796en_US
dc.identifier.scopus2-s2.0-85065051962en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage472en_US
dc.identifier.trdizinid335998en_US
dc.identifier.urihttps://app.trdizin.gov.tr/makale/TXpNMU9UazRPQT09
dc.identifier.urihttps://hdl.handle.net/20.500.12491/3120
dc.identifier.volume49en_US
dc.identifier.wosWOS:000465264700004en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorBes, Cemal
dc.language.isoenen_US
dc.relation.ispartofTurkish Journal of Medical Sciencesen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectFamilial Mediterranean Feveren_US
dc.subjectMediterranean Fever Gene Mutations
dc.subjectM694V
dc.subjectTurkey
dc.titleThe distribution of MEFV mutations in Turkish FMF patients: Multicenter study representing results of Anatoliaen_US
dc.typeArticleen_US

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