Ziaee Vahid, Maddah Marzieh, Moradinejad Mohammad-Hassan, Rezaei Arezou, Zoghi Samaneh, Sadr Maryam, Harsini Sara, Rezaei Nima
Division of Pediatric Rheumatology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, 14194, Iran.
Pediatric Rheumatology Research Group, Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Clin Rheumatol. 2017 Jan;36(1):77-81. doi: 10.1007/s10067-016-3407-6. Epub 2016 Sep 20.
Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease in children. Genetics and inflammatory elements seem to act as major underlying factors in its pathogenesis. The aim of this study is to identify the associations between interleukin-6 (IL-6) gene polymorphisms and individuals' vulnerability to JIA in a group of Iranian pediatric patients. Fifty-four patients with JIA were enrolled in this investigation and compared with 139 healthy individuals. Using polymerase chain reaction with sequence-specific primers, cytokine genotyping was performed. The allele and genotype frequencies of two single nucleotide polymorphisms (SNPs) within the IL-6 gene at -174 and +565 positions were assessed. A significant positive association was observed for IL -6 -174 G allele in the patient group (p = 0.02). Furthermore, a positive association was observed in patients with JIA for the GG genotype at the same position (p < 0.01), thus revealing a predisposing effect in JIA patients. On the other hand, a significant negative association was found for IL-6 -174 CG genotype (p < 0.01) in the case group. No significant difference was discovered in both the allelic and genotypic frequencies of IL-6 +565 position between patients and controls. Additionally, haplotype analysis divulged over representation of IL-6 GG haplotype in patient group (p < 0.01) as well as IL-6 CG haplotype in healthy controls (p < 0.01). Certain allele, genotype, and haplotype in IL-6 gene were over expressed in patients with JIA, which probably could render individuals more susceptible to this disease.
幼年特发性关节炎（JIA）是儿童中最常见的慢性风湿性疾病。遗传因素和炎症因素似乎是其发病机制中的主要潜在因素。本研究的目的是在一组伊朗儿科患者中确定白细胞介素-6（IL-6）基因多态性与个体患JIA易感性之间的关联。54例JIA患者参与了本研究，并与139名健康个体进行比较。采用序列特异性引物聚合酶链反应进行细胞因子基因分型。评估了IL-6基因在-174和+565位置的两个单核苷酸多态性（SNP）的等位基因和基因型频率。在患者组中观察到IL-6 -174 G等位基因有显著正相关（p = 0.02）。此外，在JIA患者中，同一位置的GG基因型也有正相关（p < 0.01），从而揭示了对JIA患者的易感作用。另一方面，在病例组中发现IL-6 -174 CG基因型有显著负相关（p < 0.01）。患者和对照组之间在IL-6 +565位置的等位基因和基因型频率均未发现显著差异。此外，单倍型分析显示患者组中IL-6 GG单倍型的比例过高（p < 0.01），以及健康对照组中IL-6 CG单倍型的比例过高（p < 0.01）。IL-6基因中的某些等位基因、基因型和单倍型在JIA患者中过度表达，这可能使个体更容易患这种疾病。
