MEFV gene methylation pattern analysis in familial Mediterranean fever patients with altered expression levels

Introduction Familial Mediterranean Fever (FMF) is caused by mutations in the MEFV (Mediterranean FeVer) gene, which encodes pyrin. Phenotypic heterogeneity is very common in FMF patients and may partly rely on genetic heterogeneity. However, many cases having weak phenotypic-genotypic correlation, different clinical findings and therapeutic approaches with the same genotype show that FMF is not a simple monogenic disorder. Thus we hypothesized that possible epigenetic factors such as; DNA methylation, post-transcriptional histone modifications and microRNAs may contribute to disease phenotype in FMF patients and decided to analyze MEFV gene expression and compare the levels according to DNA methylation status in neutrophils.