Association of Missense Mutations of Mediterranean Fever (MEFV) Gene with Multiple Sclerosis in Turkish Population

作者：Yigit Serbulent^*; Karakus Nevin; Kurt Semiha Gulsum; Ates Omer

来源：Journal of Molecular Neuroscience, 2013, 50(2): 275-279.

DOI：10.1007/s12031-012-9947-6

• Multiple sclerosis
• MEFV gene mutation
• FMF

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.

• 出版日期2013-6