Mahmoudi Mahdi, Rezaiemanesh Alireza, Harsini Sara, Salmaninejad Arash, Poursani Shiva, Bahrami Tayyeb, Ziaee Vahid, Rezaei Nima
Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran. AND Rheumatology Expert Group (REG), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran. AND Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Acta Med Iran. 2017 Nov;55(11):676-682.
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.
青少年特发性关节炎（JIA）是一组临床异质性的复杂疾病，其中遗传因素和环境因素似乎都在该疾病的发展中起作用。本研究旨在评估程序性细胞死亡1（PDCD1，也称为PD - 1）基因变异与伊朗人群中JIA易感性的关联。在这项病例对照关联研究中，我们调查了一组50名伊朗JIA患者，并与202名健康对照进行比较，使用聚合酶链反应 - 限制性片段长度多态性（PCR - RFLP）方法评估了PDCD1单核苷酸多态性（SNP）的等位基因、基因型和单倍型频率，这些SNP包括PD - 1.1 G/A、PD - 1.3 G/A和PD - 1.9 C/T。PD - 1.1、PD - 1.3和PD - 1.9的等位基因频率和基因型频率在患者组和对照组中相似。此外，在患者组和对照组之间，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）和AGT（PD - 1.1 A、PD - 1.3 G、PD - 1.9 T）单倍型未观察到显著差异。我们的结果未显示PDCD1 SNP与伊朗人群中JIA的发生之间存在任何关联。
