학술논문
The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of Anatolia.
Document Type
Article
Author
YAŞAR BİLGE, N. Şule; SARI, İsmail; SOLMAZ, Dilek; ŞENEL, Soner; EMMUNGİL, Hakan; KILIÇ, Levent; YILMAZ ÖNER, Sibel; YILDIZ, Fatih; YILMAZ, Sedat; ERSÖZLU BOZKIRLI, Duygu; AYDIN TUFAN, Müge; YILMAZ, Sema; YAZISIZ, Veli; PEHLİVAN, Yavuz; BES, Cemal; YILDIRIM ÇETİN, Gözde; ERTEN, Şükran; GÖNÜLLÜ, Emel; ŞAHİN, Fezan; AKAR, Servet
Source
Subject
*FAMILIAL Mediterranean fever
*GENETIC testing
*GENE frequency
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Language
ISSN
1300-0144
Abstract
Background/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. [ABSTRACT FROM AUTHOR]