Acta Medica Iranica 2017. 55(11):676-682.

PDCD1 Single Nucleotide Polymorphisms in Iranian Patients With Juvenile Idiopathic Arthritis
Mahdi Mahmoudi, Alireza Rezaiemanesh, Sara Harsini, Arash Salmaninejad, Shiva Poursani, Tayyeb Bahrami, Vahid Ziaee, Nima Rezaei

Abstract


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.


Keywords


PD-1; Single nucleotide polymorphism; Juvenile idiopathic arthritis; Children; Autoimmunity

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