Investigation of the expression levels of MEFV gene in patients with frequent MEFV pathogenic variants in Kahramanmaras (Turkey)

The main objective of this study is to detect the variants in patients who were diagnosed with familial Mediterranean fever (FMF) according to Tel-Hashomer diagnostic criteria and investigated the relationship between genotype-phenotype and the gene expression levels of the Mediterranean fever (MEFV) gene. Variant screening was achieved by automated sanger sequencing, and expression levels of the MEFV gene were analyzed by quantitative real time polymerase chain reaction (RT-PCR). A total of 46 patients with MEFV gene pathogenic variants and 8 control individuals without any variants were enrolled in the study. The most commonly encountered variants in heterozygote genotype were M694V (<i>n</i> = 4), E148Q (<i>n</i> = 3), and M680I (<i>n</i> = 2); in compound heterozygote genotype were M694V/R202Q (<i>n</i> = 4), and R202Q/E148Q (<i>n</i> = 3); in complex heterozygote genotype were R202Q/M694V/M680I (<i>n</i> = 4) and R202Q/M694V/V726A (<i>n</i> = 3); in homozygote genotype were M680I/M680I (<i>n</i> = 7) and M694V/M694V (<i>n</i> = 4). The gene expression levels of the patients with homozygous variants were found to be significantly lower than the healthy control group and patients with heterozygous variants. In patients with M694V homozygous variants, where clinical manifestations are severe, a remarkable decrease in the gene expression of the MEFV gene was observed. It was detected that there was a relationship between the genotype and gene expression level and that the level of gene expression and clinical symptoms were inversely correlated in patients with FMF.