Cieśla Marek, Kolarz Bogdan, Majdan Maria, Darmochwał-Kolarz Dorota
Institute of Medical Sciences, Medical College, University of Rzeszow, 35-959 Rzeszow, Poland.
Department of Rheumatology and Connective Tissue Diseases, Medical University of Lublin, 20-090 Lublin, Poland.
Int J Inflam. 2020 Mar 31;2020:8394659. doi: 10.1155/2020/8394659. eCollection 2020.
Interleukin-6 (IL-6) plays an essential function in the development of rheumatoid arthritis (RA), mainly through its proinflammatory effect, which may lead to joint destruction. The genes encoding IL-6 receptor () and suppressor of cytokine signaling 3 () play a key role in the IL-6 signaling pathway, but their epigenetic regulation remains unclear. The aim of the study was to investigate how the presence of methylation in the and promoters is associated with the morbidity and severity of RA. A total of 146 unrelated individuals, 122 with RA and 24 healthy controls, were enrolled in the study. All subjects were genotyped with regard to the rs4969168 and rs4969170 polymorphisms in the gene and the rs2228145 and rs4129267 polymorphisms in . The methylation study included 52 patients with RA and 24 healthy controls. Qualitative real-time methylation-specific PCR was used to evaluate methylation status. We found no differences between patients and healthy controls in the methylation pattern in the and promoter regions and in variants frequency. The methylation profiles of the and promoters do not support the hypothesis that the genes and involved in the JAK-STAT signaling pathway are epigenetically deregulated in whole blood.
白细胞介素-6(IL-6)在类风湿性关节炎(RA)的发展过程中发挥着重要作用,主要是通过其促炎作用,这可能导致关节破坏。编码IL-6受体()和细胞因子信号转导抑制因子3()的基因在IL-6信号通路中起关键作用,但其表观遗传调控仍不清楚。本研究的目的是探讨和启动子中甲基化的存在与RA的发病率和严重程度之间的关系。共有146名无亲属关系的个体参与了该研究,其中122例为RA患者,24例为健康对照。对所有受试者进行了基因分型,检测了基因中的rs4969168和rs4969170多态性以及中的rs2228145和rs4129267多态性。甲基化研究包括52例RA患者和24例健康对照。采用定性实时甲基化特异性PCR评估甲基化状态。我们发现患者与健康对照在和启动子区域的甲基化模式以及变体频率方面没有差异。和启动子的甲基化谱不支持以下假设:参与JAK-STAT信号通路的基因和在全血中发生表观遗传失调。