Programmed Cell Death 1 (PDCD1) Gene Polymorphisms in Patients with Ankylosing Spondylitis: A Turkish Case–Control Study
Bratislava Medical Journal, cilt.127, sa.6, ss.2544-2554, 2026 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 127 Sayı: 6
- Basım Tarihi: 2026
- Doi Numarası: 10.1007/s44411-026-00593-3
- Dergi Adı: Bratislava Medical Journal
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Ultimate (EBSCO)
- Sayfa Sayıları: ss.2544-2554
- Anahtar Kelimeler: Ankylosing spondylitis, Gene polymorphism, HLA-B27, Programmed cell death 1, <italic>PDCD1</italic>, SNP
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Objective: The inflammatory process resulting from the autoimmune response has a fundamental role in the pathogenesis of ankylosing spondylitis (AS). The PDCD1 gene regulates the immune system and may play a role in the pathogenesis of autoimmune diseases. In this study, we aimed to investigate the role of single-nucleotide polymorphisms (SNPs) within the PDCD1 gene and their corresponding haplotypes as potential biomarkers for susceptibility to AS in Turkish patients. Materials and Methods: A total of 150 AS patients and 144 healthy individuals were examined for the genotypes of PD-1.1, PD-1.3, PD-1.5, and PD-1.9 SNPs using the method of PCR–RFLP from peripheral blood DNA extracts. Results: Regarding the genotype frequencies of PD-1.1 (p = 0.952), PD-1.3 (p = 0.106), PD-1.5 (p = 0.653), and PD-1.9 (p = 0.994) polymorphisms, no significant difference was found between patients with AS and controls. Conclusion: The PDCD1 gene plays a crucial role in the T cell activation’s negative regulation of peripheral tolerance. Population-based differences have been reported in the PDCD1 gene polymorphism. Our study presents data on PDCD1 gene polymorphism for the first time in a Turkish cohort of ankylosing spondylitis patients and discusses the role of this gene as a biomarker for AS disease pathogenesis.