Department of Hematology, Faculty of Medicine, Ankara University, Ankara, Türkiye.
Department of Medical Microbiology, Faculty of Medicine, Ankara University, Ankara, Türkiye.
Mol Biol Rep. 2024 Jul 23;51(1):844. doi: 10.1007/s11033-024-09786-x.
Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease primarily affecting individuals of Turkish, Armenian, Arab, and non-Ashkenazi Jewish descent, caused by mutations in the MEFV gene. The aim of this study was to review the common genotype distributions of MEFV variants and mutations in the Turkish population and evaluate rare mutations.
The study included 2984 patients who applied to Ankara University Ibni Sina Hospital Immunology Laboratory with clinical suspicion of FMF between 2004 and 2014. The data of patients from different regions of the country who were followed up in the immunology-rheumatology clinic with clinical suspicion and presumptive diagnosis of FMF were evaluated retrospectively. Patients were tested for all mutations in Exon 2 and Exon 10, including M694V, M680I, M694I, V726A, E148Q and R202Q. There were 2504 patients with FMF variant. According to genotyping, R202Q (n = 1567, 39.2%) was the most common mutation. The most common co-variant was the R202Q/M694V genotype (n = 507, 16.98%). Allele frequencies for MEFV mutations were as follows: R202Q (n = 1567, 39.2%), M694V (n = 1004, 25.1%), E148Q (n = 463, 11.5%), M680I (n = 354, 8.8%), V726A (n = 319, 7.9%), A744S (n = 51, 1.2%), R761H (N = 41, 1.0%), P706P (N = 25, 0.6%), E167D (N = 23, 0.5%), M694I (N = 23, 0.5%), and K695R (N = 20, 0.5%).
This research revealed the prevalence of both common and rare MEFV gene mutations in Turkish FMF patients in various age groups. R202Q was the most prevalent mutation.
家族性地中海热（FMF）是一种常染色体隐性自身炎症性疾病，主要影响土耳其、亚美尼亚、阿拉伯和非阿什肯纳兹犹太血统的个体，由 MEFV 基因突变引起。本研究旨在回顾土耳其人群中 MEFV 变异和突变的常见基因型分布，并评估罕见突变。
该研究纳入了 2004 年至 2014 年间因临床疑似 FMF 而到安卡拉大学 Ibni Sina 医院免疫学实验室就诊的 2984 名患者。回顾性评估了在免疫风湿病学诊所因临床疑似和推定诊断为 FMF 而在该国不同地区接受随访的患者的数据。对所有突变进行了检测包括 Exon 2 和 Exon 10 的 M694V、M680I、M694I、V726A、E148Q 和 R202Q。有 2504 名患者存在 FMF 变异。根据基因分型，R202Q（n=1567，39.2%）是最常见的突变。最常见的共变体是 R202Q/M694V 基因型（n=507，16.98%）。MEFV 突变的等位基因频率如下：R202Q（n=1567，39.2%）、M694V（n=1004，25.1%）、E148Q（n=463，11.5%）、M680I（n=354，8.8%）、V726A（n=319，7.9%）、A744S（n=51，1.2%）、R761H（n=41，1.0%）、P706P（n=25，0.6%）、E167D（n=23，0.5%）、M694I（n=23，0.5%）和 K695R（n=20，0.5%）。
本研究揭示了土耳其 FMF 患者在不同年龄组中常见和罕见 MEFV 基因突变的流行情况。R202Q 是最常见的突变。
