Correlation genotype-phenotype: MEFV gene mutations and Moroccan patients with rheumatoid arthritis.

Introduction: 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). Methods: 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-CCP2), rheumatoid factor (RF) and were analyzed by Sanger Sequencing of the 2 and 10 exons of MEFV gene (hot-spot according to the literature). Results: 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. Conclusion: 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.

Prevalence of autoimmune diseases and clinical significance of autoantibody profile: Data from National Institute of Hygiene in Rabat, Morocco.

AIM: The objective of this study was to explore the prevalence of various autoimmune diseases (AIDs) in a large cohort of patients and to characterize the autoantibody profile in the patients with and without AIDs to confirm the diagnosis and to refine the Moroccan databases. PATIENTS AND METHOD: Retrospective study was conducted in the Laboratory of autoimmunity National Institute of Hygiene (NIH) of Rabat in Morocco. A total of 3182 consecutive Moroccan patients (2183 females and 999 males) whose sera were tested for 14 autoantibody profile between 2010 and 2016. RESULTS: Only 944 (29.7%) patients were diagnosed with AIDs of those suspected. The prevalence of systemic lupus erythematosus (SLE), intestinal malabsorption (IM) and arthritis polyarthralgia (AP) were the highest (4.2, 4.1 and 4%), subsequently followed by rheumatoid arthritis (RA) (2.8%), cholestatic syndrome (CS) (1.8%), interstitial lung disease (ILD) (1.6%).In females IM, AP and SLE also showed the highest prevalence (5.4%, 5.3% and 4.9% respectively), while of male, SLE showed the highest prevalence (1.9%). The prevalence of ANA was increased in most patients with systemic especially in neuropathy (NP), hemolytic anemia (HA), primary Sjogren's syndrome (pSS), dermatomyositis (DM), thrombocytopenia (Tb), systemic sclerosis (SSc), ANCA-associated vasculitis (AAV), AP, Renal impairment (RI), SLE, and mixed connective tissue disease (MCTD). Anti-dsDNA antibodies were higher in SLE and ENA showed the highest titers in MCTD. Others are relatively specific for certain disease, such as anti ß2GP1 for thrombosis syndrome, anti ANCA for primary sclerosing cholangitis (PSC), AAV, ILD and RI, anti CCP2 for RA, ILD and AP. the prevalence of anti AMA was higher in primary biliary cirrhosis (PBC), followed in CS, also, ANA have been identified in up to 25% of patients with primary biliary cirrhosis. The prevalence of anti-SMA was higher in PBC, treated patients for Chronic hepatitis C (HCV), and autoimmune hepatitis (AIH) and anti-PCA was higher in biermer anemia patients with vitamin B12 deficiency (BA/Def vit B12). The prevalence of IgA EMA, IgA tTG and IgA AGA were higher in patients IM and celiac disease (CD). The prevalence of anti thyroperoxidase (TPO) was significantly increased in the autoimmune thyroiditis (AIT). CONCLUSION: Our study shows the diagnostic value of auto antibodies in AIDs. It would be interesting to carry out prospective studies on each pathology separately, in order to fill the classic vagaries of the retrospective study and objectively estimate the prevalence in different AIDs. These data on the prevalence of each autoimmune disease are valuable for the public health system.