Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Inflammation. 2011 Dec;34(6):707-12. doi: 10.1007/s10753-010-9282-4.
Ankylosing spondylitis (AS) is a chronic inflammatory disease, characterized by axial arthritis in which the genetic-environmental factors seem to be involved in the pathogenesis of the disease. This study was performed to investigate the role of polymorphisms of the programmed cell death 1 (PDCD1) gene on susceptibility to AS. In this study, 161 Iranian patients with AS and 208 normal controls were enrolled; two single-nucleotide polymorphisms (SNPs) of the PDCD1 gene PD-1.3 (G, A) in nucleotide position +7146 of intron 4 and PD-1.9 (C, T) in nucleotide +7625 of exon 5 were studied. Analysis of PD-1.3 revealed that 82% of patients and 79% of controls had GG genotype, while GA and AA genotypes were detected in 17% and 0.6% of patients, respectively, and 20% and 1.4% of controls, respectively. Moreover, the genotype CC (PD-1.9) was present in 92% of patients and 97% of controls. Although these differences were not statistically significant between patients and controls, comparisons of genotypes frequencies in the AS patients, based on human leukocyte antigen (HLA)-B27, revealed that all patients who had CT genotype (PD-1.9) were HLA-B27 positive, whereas 30% of patients with CC genotype were HLA-B27 negative. There was no evidence of association for PDCD1 SNPs with AS in our study, but CT genotype (PD-1.9) seems to be associated with HLA-B27 positivity in the patients with AS.
强直性脊柱炎（AS）是一种慢性炎症性疾病，其特征为中轴关节炎，遗传-环境因素似乎参与了疾病的发病机制。本研究旨在探讨程序性细胞死亡 1（PDCD1）基因多态性对 AS 易感性的作用。本研究纳入了 161 例伊朗 AS 患者和 208 例正常对照者；研究了 PDCD1 基因 PD-1.3（G，A）在 4 号内含子核苷酸位置+7146 和 PD-1.9（C，T）在 5 号外显子核苷酸+7625 的两个单核苷酸多态性（SNP）。PD-1.3 分析显示，82%的患者和 79%的对照组为 GG 基因型，GA 和 AA 基因型分别在患者和对照组中占 17%和 0.6%、20%和 1.4%。此外，PD-1.9 的 CC 基因型（CC）在 92%的患者和 97%的对照组中存在。尽管患者和对照组之间的这些差异无统计学意义，但根据人类白细胞抗原（HLA）-B27 对 AS 患者的基因型频率进行比较后发现，所有具有 CT 基因型（PD-1.9）的患者均为 HLA-B27 阳性，而 CC 基因型患者中则有 30%为 HLA-B27 阴性。在本研究中，PDCD1 SNP 与 AS 无相关性，但 CT 基因型（PD-1.9）似乎与 AS 患者的 HLA-B27 阳性相关。
