Polymorphisms of CTLA-4 (rs231775) and FOXP3 (rs3761548) Genes with Celiac Disease in Turkish Pediatric Patients

Authors : Abdullah Said Yılmaz, Aslı Eldem, Maşallah Baran, Melek Pehlivan, Tülay Kılıçaslan Ayna, İbrahim Pirim, Mustafa Soyöz

Pages : 365-370

Doi:10.61399/ikcusbfd.1363439

View : 63 | Download : 91

Publication Date : 2024-10-04

Article Type : Research Paper

Abstract :Objective: Celiac disease (CD) is one of the most common autoimmune disorders in which gluten damages the small intestine. The CTLA-4 and FOXP3 genes play an important role in immune tolerance, so it is hypothesized that polymorphisms of these genes may be related to celiac disease. Our study aimed to investigate the associated with celiac disease and the CTLA-4 +49 A/G (rs231775) and FOXP3 -3279 C/A (rs3761548) polymorphisms by comparing celiac disease patients with a healthy control group. Material and Methods: The single nucleotide polymorphisms (SNP) of +49 A/G in CTLA-4 (rs231775) gene and -3279 C/A in FOXP3 (rs3761548) gene were studied by Polymerase Chain Reaction- Restriction Fragment Length Polymorphism (PCR-RFLP) method in 125 pediatric celiac patients and 100 healthy controls. Results: The A and G alleles of the CTLA-4 gene were found more frequently in the celiac patient group than in the control group. In addition, the A and C alleles of the FOXP3 gene were found more frequently in celiac disease patients than in healthy controls. There were no statistically significant results for the two polymorphisms CTLA-4 +49 A/G and FOXP3 -3279 C/A based on genotype or allele frequency (p > 0.05). When analyzing the risk allele, the FOXP3 gene polymorphism -3279 C/A proved to be significant in CD patients (p<0.05). Conclusion: This is the first study to evaluate the CTLA-4 and FOXP3 polymorphisms in Turkish pediatric celiac patients. The significance of polymorphisms of non-HLA genes may be associated with celiac risk as that of HLA genes, but further studies should be performed.
Keywords : Çölyak hastalığı, CTLA 4, FOXP3, Gen polimorfizmi