Association of Missense Mutations of Mediterranean Fever MEFV Gene with Multiple Sclerosis in Turkish Population       
Yazarlar (4)
Serbulent Yigit
Tokat Gaziosmanpaşa Üniversitesi, Türkiye
Doç. Dr. Nevin KARAKUŞ Tokat Gaziosmanpaşa Üniversitesi, Türkiye
Semiha Gülsüm Kurt
Tokat Gaziosmanpaşa Üniversitesi, Türkiye
Omer Ates
Tokat Gaziosmanpaşa Üniversitesi, Türkiye
Makale Türü Özgün Makale
Makale Alt Türü SSCI, AHCI, SCI, SCI-Exp dergilerinde yayınlanan tam makale
Dergi Adı Journal of Molecular Neuroscience
Dergi ISSN 0895-8696 Wos Dergi Scopus Dergi
Dergi Tarandığı Indeksler SCI
Dergi Grubu Q4
Makale Dili İngilizce
Basım Tarihi 06-2013
Cilt No 50
Sayı 2
Sayfalar 275 / 279
DOI Numarası 10.1007/s12031-012-9947-6
Özet
Genetic risk factors are known to contribute to the etiology of multiple sclerosis (MS). Patients with familial Mediterranean fever (FMF) have susceptibility to develop MS. Mediterranean fever (MEFV) gene has already been identified as being responsible for FMF. The aim of this study was to explore the frequency of missense mutations of MEFV gene in a cohort of Turkish patients with MS. The study included 100 patients with MS and 160 healthy controls. Genomic DNA was isolated and genotyped using polymerase chain reaction and restriction fragment length polymorphism analyses for the five MEFV gene mutations (M694V, M680I, V726A, E148Q, and P369S). There were statistically significant differences of the MEFV gene mutation carrier rates and allele frequencies between MS patients and healthy controls (p = 0.0008, odds ratio (OR) 2.6, 95 % confidence interval (CI) 1.47-4.77 and p = 0.0002, OR 2.6, 95 % CI 1.55-4.48, respectively). The results of this study suggest that MEFV gene mutations are positively associated with predisposition to develop MS. © 2013 Springer Science+Business Media New York.
Anahtar Kelimeler
FMF | MEFV gene mutation | Multiple sclerosis