MEFV Gene Variant Alleles in Normal Population of Northwest of Iran, Which Is Near to Mediterranean Sea

Background and Objective. MEFV gene codes the pyrine protein that has major role in FMF as an autoinfammatory disorder. FMF is more ofen seen in the people of the Mediterranean area. Considering the signifcant role of MEFV gene in many rheumatologic diseases and even nonrheumatologic disorders, it is necessary to identify diferent variations of these mutations in the healthy and normal population of this area. Methods. 224 healthy (unafected or control) people based on the Cochran formula entered this study. Te blood samples were screened for the 12 common MEFV gene variants polymorphisms according to manufacturer’s instructions (FMF Strip Assay, Vienna lab, Vienna, Austria). Tey flled a questionnaire containing required information. All healthy control cases initially were evaluated for FMF symptoms and signs in themselves and their frst-degree relatives based on clinical criteria. All data were analyzed by simple statistical method. Results. Among 224 healthy control cases, 113 (50.4%) were male and 111 (49.6%) female. Tere were MEFV variants alleles in 57 patients (25%): 28 were male (49.1%) and 29 female (50.9%). Te most frequent variants were E148Q (18.3%), followed by P369S (3.1%), V726A (2.2%), A744S (1.3%), and F479L, M694V, and R761H (0.8%), and eventually K695R (0.4%), respectively. Some variants such as M694I, M680I (G/C), M680I (G/A), and I692del were not seen in these samples. Tere were compound heterozygote variations of E148Q/P369S, E148Q/V726A, E148Q/P369S, and P369S/F479L in normal population without any fndings in favor of FMF.Conclusion. Twenty-fve percent of the normal populations of the northwest of Iran are carrying MEFV gene variants, and the most common mutation is E148Q (18.3%).Te presence of M694I, M680I (G/C), M680I (G/A), I692del mutations in the normal population can be interpreted cautiously, while particular compound heterozygote mutations can be considered as normal variants.