Tehran University of Medical Sciences Acta Medica Iranica 0044-6025 55 11 2018 01 02 676 682 EN Mahdi Mahmoudi Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran. AND Rheumatology Expert Group (REG), Universal Scientific Education and Research Network (USERN), Tehran, Iran. Alireza Rezaiemanesh Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran. AND Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Sara Harsini Molecular Immunology Research Center, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. AND Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran. Arash Salmaninejad Research Center for Immunodeficiencies, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran. Shiva Poursani Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran. Tayyeb Bahrami Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Vahid Ziaee Department of Pediatrics, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran. AND Pediatric Rheumatology Research Group, Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran. Nima Rezaei Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. AND Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran. AND Research Center for Immunodeficiencies, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran. 2016 09 09 2017 04 15 Juvenile idiopathic arthritis (JIA) is a clinically heterogeneous cluster of complex diseases, in which both the genetic and environmental factors seem to play a role in the development of the disease. The current study aims to assess the association of programmed cell death 1 (PDCD1, also called PD-1) gene variants with JIA vulnerability in Iranian population. In this case-control association study, we investigated a group of 50 Iranian patients with JIA in comparison with 202 healthy controls and evaluated the frequency of alleles, genotypes, and haplotypes of PDCD1 single-nucleotide polymorphisms (SNPs), comprising PD-1.1 G/A, PD-1.3 G/A and PD-1.9 C/T, using PCR-RFLP method. Both the allelic and genotype frequencies of PD-1.1, PD-1.3 and PD-1.9 were similar in two groups of patients and controls. Moreover, no significant difference was observed between the two groups of patients and controls for GGC (PD-1.1 G, PD-1.3 G, PD-1.9 C), GAC (PD-1.1 G, PD-1.3 A, PD-1.9 C), and AGT (PD-1.1 A, PD-1.3 G, PD-1.9 T) haplotypes. Our results did not show any association between PDCD1 SNPs and the development of JIA in Iranian population. https://acta.tums.ac.ir/index.php/acta/article/view/5874 https://acta.tums.ac.ir/index.php/acta/article/download/5874/5014