Mutations in the Mediterranean fever (MEFV) gene lead to familial Mediterranean fever (FMF), a pro-inflammatory state characterized by outbursts of inflammatory cytokines. The aims of this study were to identify the common mutations of MEFV gene in Egyptian patients with FMF, to study cytotoxic T lymphocyte associated antigen 4 (CTLA-4) gene polymorphism and to evaluate correlations between CTLA4-1661 polymorphisms and MEFV mutations and clinical symptoms. Four hundred and twenty-four patients with clinical pictures suspicious of FMF were enrolled in this study. Mutations in MEFV gene were confirmed by reversed hybridization. Patients with homozygous and compound heterozygous mutations and 120 healthy controls were investigated for polymorphism of -1661 CTLA4 gene and the findings correlated with disease incidence and clinical symptoms of the disease. Ninety-seven patients had single heterozygous mutations and 78 had compound heterozygous or homozygous MEFV gene mutations. M694I/V726A was the most common genotype (14.1%), followed by homozygous M694I. There was no statistically significant difference between patients and controls in incidence of -1661 A/G single nucleotide polymorphism CTLA4 (P = 0.189), nor any significant correlation with any of the clinical symptoms of FMF and MEFV gene mutations.
Keywords: CTLA4; adaptive immune response; gene polymorphism.
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