TY - JOUR T1 - Polymorphisms of CTLA-4 (rs231775) and FOXP3 (rs3761548) Genes with Celiac Disease in Turkish Pediatric Patients TT - Çölyak Hastalığı Olan Türk Pediatrik Hastalarda CTLA-4 (rs231775) ve FOXP3 (rs3761548) Genlerinin Polimorfizmleri AU - Soyöz, Mustafa AU - Yılmaz, Abdullah Said AU - Eldem, Aslı AU - Baran, Maşallah AU - Pehlivan, Melek AU - Kılıçaslan Ayna, Tülay AU - Pirim, İbrahim PY - 2024 DA - October DO - 10.61399/ikcusbfd.1363439 JF - İzmir Katip Çelebi Üniversitesi Sağlık Bilimleri Fakültesi Dergisi JO - İKÇÜSBFD PB - Izmir Katip Celebi University WT - DergiPark SN - 2458-9799 SP - 365 EP - 370 VL - 9 IS - 3 LA - en AB - 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 KW - Celiac disease KW - CTLA-4 KW - FOXP3 KW - gene polymorphism N2 - Amaç: Çölyak hastalığı, glutenin ince bağırsağa zarar verdiği en yaygın otoimmün hastalıklardan biridir. CTLA-4 ve FOXP3 genleri, immün toleransta önemli bir rol oynamaktadır, bu nedenle bu genlerin polimorfizmlerinin çölyak hastalığı ile ilişkili olabileceği varsayılmaktadır. Çalışmamız çölyak hastalarını sağlıklı kontrol grubu ile karşılaştırarak çölyak hastalığı ile CTLA-4 +49 (rs231775) ve FOXP3 -3279 C/A(rs3761548) polimorfizmleri arasındaki ilişkiyi araştırmayı amaçlamıştır. Gereç ve Yöntemler: 125 pediatrik çölyak hastasında ve 100 sağlıklı kontrolde CTLA- 4 (rs231775) genindeki +49 A/G ve FOXP3 (rs3761548) genindeki -3279 C/A’nın tek nükleotid polimorfizmleri (SNP), Polimeraz Zincir Reaksiyonu Restriksiyon Fragment Uzunluk Polimorfizmi (PCR-RFLP) yöntemi ile araştırıldı. Bulgular: CTLA-4 geninin A ve G alelleri çölyak hasta grubunda kontrol grubuna göre daha sık bulundu. Ayrıca FOXP3 geninin A ve C alelleri çölyak hastalarında sağlıklı kontrollere göre daha sık bulundu. CTLA-4 +49 A/G ve FOXP3 -3279 C/A için genotip veya alel frekansına dayalı olarak istatistiksel olarak anlamlı bulunmamıştır (p>0,05). Risk aleli analiz edildiğinde, FOXP3 gen polimorfizminin CD hastalarında anlamlı bulunmuştur (p CR - Eldem, A., Ayna, T. K., Baran, M., Soyoz, M., & Pirim, İ. Determination of High-Resolution HLA-DQB1 Suballeles and IL-17 Polymorphisms in Turkish Pediatric Patients. Journal of Pediatric Genetics. 2021; 11(3): 192–197 CR - Lundin, K. E., & Wijmenga, C. Coeliac disease and autoimmune diseasegenetic overlap and screening. Nature reviews Gastroenterology & hepatology. 2015;12(9), 507-515. CR - Serena, G., Lima, R., & Fasano, A. Genetic and environmental contributors for celiac disease. Current Allergy and Asthma Reports.2019; 19(9), 1-10. 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