Yucel Burcu, Sumer Ceren, Gok Ilhami, Karkucak Murat, Alemdaroglu Emel, Ucar Fahri
Department of Medical Biology, Istanbul Medeniyet University Faculty of Medicine, Istanbul, Turkey.
Department of Medical Biology, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey.
North Clin Istanb. 2020 Nov 11;7(6):563-571. doi: 10.14744/nci.2020.70845. eCollection 2020.
Various cytokine polymorphisms have been associated with genetic risk factors predisposing to Rheumatoid Arthritis (RA) in different populations. To predict the clinical outcome as well as response to therapy in RA, studies aimed to describe genetic markers. The present study aims to search for polymorphisms of 13 cytokine coding genes in the Eastern Black Sea Region of Turkey.
DNAs of 49 patients and 96 healthy bone marrow and kidney donors were isolated from peripheral blood samples. Genotyping was performed using the Heidelberg Cytokine Typing Tray kit. PCR products were visualized on an agarose gel, and results were analyzed using the interpretation scheme provided with the kit. Arlequin 3.5 software was used for statistical analysis.
No positive association was found between allele frequencies and the disease. However, a negative association was found for the IL-A -889 C allele (p=0.02, OR=0.533, Wald's 95% CI=0.318-0.893). IL-12 -1188 CC (p=0.01, OR=3.667, Wald's 95% CI=1.246-10.786), IL-4 -1098 GT (p=0.02, OR=2.405, Wald's 95% CI=1.129-5.125) genotypes were found positively associated with the RA, while IL-4 -590 CT (p=0.02, OR=0.422, Wald's 95% CI=0.201-0.886) was found negatively associated with the disease. In addition, IL-6 GG haplotype was found positively associated with the RA (p=0.02, OR=1.880, Wald's 95% CI=1.086-3.254).
Our findings suggest that some polymorphisms of the IL-1A, IL-2, IL-4, IL-6 and IL-12 could be responsible for the susceptibility or protective to RA in our study population. Multi-centered and large numbers of subjects containing studies that search for cytokine polymorphisms will gather more information regarding the susceptibility to RA of Turkish patients.
在不同人群中,多种细胞因子多态性与类风湿关节炎(RA)的遗传风险因素相关。为预测RA的临床结局以及对治疗的反应,开展了旨在描述遗传标记的研究。本研究旨在探寻土耳其黑海东部地区13个细胞因子编码基因的多态性。
从外周血样本中分离出49例患者以及96名健康骨髓和肾脏捐赠者的DNA。使用海德堡细胞因子分型试剂盒进行基因分型。PCR产物在琼脂糖凝胶上可视化,结果使用试剂盒提供的解读方案进行分析。使用Arlequin 3.5软件进行统计分析。
未发现等位基因频率与该疾病之间存在正相关。然而,发现IL-A -889 C等位基因存在负相关(p = 0.02,OR = 0.533,Wald 95%可信区间 = 0.318 - 0.893)。发现IL-12 -1188 CC(p = 0.01,OR = 3.667,Wald 95%可信区间 = 1.246 - 10.786)、IL-4 -1098 GT(p = 0.02,OR = 2.405,Wald 95%可信区间 = 1.129 - 5.125)基因型与RA呈正相关,而IL-4 -590 CT(p = 0.02,OR = 0.422,Wald 95%可信区间 = 0.201 - 0.886)与该疾病呈负相关。此外,发现IL-6 GG单倍型与RA呈正相关(p = 0.02,OR = 1.880,Wald 95%可信区间 = 1.086 - 3.254)。
我们的研究结果表明,在我们的研究人群中,IL-1A、IL-2、IL-4、IL-6和IL-12的某些多态性可能是RA易感性或保护性的原因。开展探寻细胞因子多态性的多中心、大样本研究将获取更多关于土耳其患者RA易感性的信息。