Department of Medical Biology, Faculty of Medicine, Gaziosmanpasa University, 60100 Tokat, Turkey.
J Mol Neurosci. 2013 Jun;50(2):275-9. doi: 10.1007/s12031-012-9947-6. Epub 2013 Jan 8.
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.
遗传风险因素被认为是多发性硬化症（MS）发病的原因之一。家族性地中海热（FMF）患者易患 MS。MEFV 基因已被确定为 FMF 的致病基因。本研究旨在探讨 MEFV 基因突变在土耳其 MS 患者中的发生率。该研究纳入了 100 名 MS 患者和 160 名健康对照者。采用聚合酶链反应和限制性片段长度多态性分析技术，对 5 种 MEFV 基因突变（M694V、M680I、V726A、E148Q 和 P369S）进行基因分型，提取基因组 DNA。MS 患者和健康对照者的 MEFV 基因突变携带者率和等位基因频率存在统计学差异（p=0.0008，OR=2.6，95%可信区间 1.47-4.77 和 p=0.0002，OR=2.6，95%可信区间 1.55-4.48）。本研究结果提示 MEFV 基因突变与 MS 的易感性呈正相关。
