Association of CD40 gene polymorphisms rs1883832 and rs4810485 with familial mediterranean fever in pediatric patients

Abstract Background Familial Mediterranean fever (FMF) is a recessively inherited autoinflammatory disease characterized by a combination of multiple clinical symptoms potentially associated with numerous genetic and non-genetic risk factors. The CD40 gene, which plays an essential role in inflammatory responses and immune system regulation, contains single-nucleotide polymorphisms (SNPs) that have been linked to various diseases. This research aimed to examine potential associations between CD40 SNPs and FMF in pediatric patients. Methods Data regarding common MEFV gene mutations in the patient cohort were analyzed using pyrosequencing techniques. For both patient and control groups, CD40 gene SNPs were genotyped using real-time PCR with rs1883832 and rs4810485 Taq-Man genotyping probes. Results The analysis of the CD40 gene's rs1883832 SNP revealed the following distribution in the patient group: CC genotype at 43.0%, CT genotype at 56.0%, and TT genotype at 1.0%. In comparison, the control group showed CC genotype in 47.0% and CT genotype in 53.0% of cases. For the rs4810485 SNP of the CD40 gene, the patient group exhibited GG genotype in 43.0%, GT genotype in 43.0%, and TT genotype in 14.0% of cases. The control group showed distributions of 47.0% for GG genotype, 45.0% for GT genotype, and 8.0% for TT genotype. Conclusions The study found no statistically significant correlations between FMF disease and either the rs1883832 or rs4810485 SNPs of the CD40 gene.