Programmed Cell Death 1 (PDCD1) Gene Polymorphisms in Patients with Ankylosing Spondylitis: A Turkish Case–Control Study

Abstract 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.