Laboratory of Human Pathologies Biology, Department of Biology, Faculty of Sciences, and Genomic Center of Human Pathologies, Faculty of Medicine and Pharmacy, Mohammed V University in Rabat, Rabat, Morocco.
Laboratory Autoimmunity, Department of Immunology, National Institute of Hygiene, Rabat, Morocco.
Pan Afr Med J. 2022 Feb 11;41:121. doi: 10.11604/pamj.2022.41.121.30368. eCollection 2022.
rheumatoid arthritis (RA) is a systemic autoimmune disease primarily affecting the joints. Arthritic disorders are associated with mutations of the Mediterranean fever (MEFV) gene. The aim of this study is to show whether MEFV mutations will be involved in the pathogenesis of RA, to explore the frequency of these mutations and to study the genotype-phenotype correlation between mutations in this gene and a cohort of Moroccan patients with rheumatoid arthritis (RA).
the present study included 100 patients with RA and 200 control group (CG) who were unrelated individuals from the same ethnic. All patients were tested for auto-antibodies: cyclic citrullinated peptide (ACPA/anti-CCP), rheumatoid factor (RF) and were analyzed by Sanger Sequencing of the 2 and 10 exons of MEFV gene (hot-spot according to the literature).
we detected 13 missense variants already MEFV gene mutation reported in the literature (S154T, G222A, G230L, L611H, L695A, M694V, I720M, A737L, P758S, L709A, T732A, G687A and P743L). Carrier rates of MEFV gene mutations were 24/100 (24%) for the RA group and 4/200 (4%) for CG. In the RA group, we observed that no man has presented with MEFV mutation. In the RA group, while gender, BMI, RF and ACPA were significantly higher in the mutation carrier group than those of the non-carrier group (p<0.01). The level of C-reactive protein and HAQ were slightly elevated in the carrier group but not significant. No other significant differences were observed between patients with MEFV mutations and those without MEFV mutations.
the results of this study suggest that MEFV gene mutations appear to be an aggravating factor severity of RA and consequently, patients with RA might be screened for MEFV gene mutations in countries where FMF is frequent. We report also that our study is the first one in our country Morocco.
类风湿关节炎（RA）是一种主要影响关节的系统性自身免疫性疾病。关节炎疾病与地中海热（MEFV）基因突变有关。本研究旨在探讨 MEFV 基因突变是否与 RA 的发病机制有关，研究该基因在摩洛哥 RA 患者队列中的突变频率及基因型-表型相关性。
本研究纳入了 100 例 RA 患者和 200 例对照组（CG），CG 为来自同一民族的无关个体。所有患者均进行了自身抗体检测：环瓜氨酸肽（ACPA/抗-CCP）、类风湿因子（RF），并通过 MEFV 基因第 2 和 10 外显子的 Sanger 测序（根据文献中的热点）进行分析。
我们在 MEFV 基因中检测到 13 种已报道的错义变异（S154T、G222A、G230L、L611H、L695A、M694V、I720M、A737L、P758S、L709A、T732A、G687A 和 P743L）。RA 组 MEFV 基因突变携带者率为 24/100（24%），CG 组为 4/200（4%）。在 RA 组中，我们观察到没有男性携带 MEFV 突变。在 RA 组中，与非携带者相比，突变携带者组的性别、BMI、RF 和 ACPA 显著更高（p<0.01）。携带者组的 C 反应蛋白和 HAQ 水平略有升高，但无统计学意义。在携带 MEFV 突变和不携带 MEFV 突变的患者之间未观察到其他显著差异。
本研究结果表明，MEFV 基因突变似乎是 RA 严重程度的加重因素，因此在 FMF 高发的国家，RA 患者可能需要筛查 MEFV 基因突变。我们还报告说，我们的研究是在摩洛哥这个国家进行的首次研究。
