CD40 gene polymorphisms in pediatric patients with familial Mediterranean fever

Aim: Familial Mediterranean fever (FMF) is a recessively inherited autoinflammatory disease. FMF is a disease with a combination of many clinical symptoms and may be associated with most genetic and non-genetic risk factors. Single nucleotide polymorphisms in the CD40 gene, which participates in local and systemic inflammatory responses, play a critical role in the regulation of the immune system, have been associated with many diseases. In our study, we aimed to investigate whether CD40 polymorphisms have an effect on the pathogenesis of the disease. Material and Method: Common mutations in the MEFV (Mediterranean Fever) gene in patients were obtained by pyro-sequence analysis. TaqMan genotyping probes of rs1883832 and rs4810485 Single Nucleotide Polymorphisms (SNPs) were used in Real-Time PCR for genotyping of SNPs in CD40 gene for patient and control groups. Results: In our study, E148Q (33.6%) and M694V (23.4) mutations were the most common mutations as a result of the mutation analysis of the MEFV gene. As a result of rs1883832 single nucleotide polymorphism analysis of CD40 gene, CC genotypes were detected in 43.0%, CT in 56.0% and TT in 1.0% of the patient group, whereas CC genotypes were detected in 47.0% and CT in 53.0% of the control group. As a result of rs4810485 single nucleotide polymorphism analysis of CD40 gene, GG genotypes were detected in 43.0%, GT in 43.0% and TT in 14.0% of the patient group, whereas GG genotypes were detected in 47.0%, GT in 45,0% and TT in 8.0% of the control group. There was no statistical difference between the patient and control groups in both single nucleotide polymorphisms (p>0.05). Conclusion: In the light of the data obtained in our study, there was no significant correlation between FMF disease and CD40 gene rs1883832 and rs4810485 single nucleotide polymorphisms. According to our current literature knowledge, our study is important in terms of being the first study conducted in the pediatric patient with FMF in our country.