Department of Internal Medicine, Pamukkale University Faculty of Medicine, Denizli, Turkey.
Division of Rheumatology, Department of Internal Medicine, Pamukkale University Faculty of Medicine, Denizli, Turkey.
Rheumatol Int. 2022 Mar;42(3):555-562. doi: 10.1007/s00296-021-04881-9. Epub 2021 May 12.
Rheumatoid arthritis (RA) is a common autoimmune disease in which many different genetic variants of functional gene polymorphisms may play a culprit role in the underlying pathogenetic mechanism. The recent studies suggest that interleukin-23 receptor (IL-23R) gene polymorphisms may increase susceptibility to the development of various autoimmune diseases. We aimed to examine the possible relationship of nine single nucleotide polymorphisms (SNPs) in the IL-23R gene to susceptibility to rheumatoid arthritis and their associations with disease characteristics in the South Aegean region of Turkey. We enrolled 100 rheumatoid arthritis patients and age- and sex-matched 96 healthy subjects in the study. After deoxyribonucleic acid (DNA) isolation was performed, a 'Restriction Fragment Length Polymorphism' (RFLP) method was used for the investigation of polymorphisms associated with the IL-23R gene. Allele identification and genotyping were obtained from polymerase chain reaction (PCR) products using gel electrophoresis. Allele frequencies and detected genotypes were compared between groups. All statistical analyses were performed using SPSS 25.0 (IBM SPSS Statistics 25 software (Armonk, NY: IBM Corp.)). Continuous variables were defined by the mean ± standard deviation and categorical variables were defined by number and percent. Logistic Regression Analysis was used for determining which variables affect the presence of RA. Differences between categorical variables were analyzed with Chi-square analysis. Statistical significance was determined as p < 0.05. The mean age was 53.48 ± 11.7 years in the RA group, whereas 52.55 ± 12.7 years in the healthy control group. The genotypes of IL-23R with rs11805303(TT), rs10889677(AA), rs1004819(AA), and rs7530511(CT) polymorphisms were seen more often in RA patients than healthy controls. Having the AA genotype of IL-23R rs1004819 and the CT genotype of Il-23R rs7530511 increase the development risk of RA with a statistical significance (OR: 3.416 p = 0.003 and OR: 4.899 p = 0.0001, respectively). RA patients with the CC genotype of Il-23R with rs11805303, the CC genotype with rs10889677, and the TT genotype with rs2201841 of the IL-23R gene had higher erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) levels than with other genotypes. RA patients with the CC genotype rs11805303 and the GG genotype rs1004819 of the IL-23R gene had more active disease. Our findings suggest that all of the nine analyzed IL-23R gene polymorphisms are seen more frequently than healthy controls in our study population. Besides, some SNPs were related to higher acute phase reactants and higher disease activity scores.
类风湿关节炎(RA)是一种常见的自身免疫性疾病,其中许多不同的功能基因突变可能在潜在的发病机制中起关键作用。最近的研究表明,白细胞介素-23 受体(IL-23R)基因多态性可能增加了发生各种自身免疫性疾病的易感性。我们旨在研究 IL-23R 基因中的九个单核苷酸多态性(SNP)与类风湿关节炎易感性之间的可能关系及其与土耳其爱琴海地区疾病特征的关系。我们招募了 100 名类风湿关节炎患者和年龄和性别匹配的 96 名健康对照者进行研究。在提取脱氧核糖核酸(DNA)后,采用“限制性片段长度多态性”(RFLP)方法对与 IL-23R 基因相关的多态性进行了研究。使用凝胶电泳从聚合酶链反应(PCR)产物中获得等位基因识别和基因分型。比较组间等位基因频率和检测基因型。所有统计分析均采用 SPSS 25.0(IBM SPSS Statistics 25 软件(Armonk,NY:IBM Corp.))进行。连续变量用平均值±标准差表示,分类变量用数量和百分比表示。使用逻辑回归分析确定哪些变量影响 RA 的存在。使用卡方分析比较分类变量之间的差异。统计显著性定义为 p<0.05。RA 组的平均年龄为 53.48±11.7 岁,健康对照组的平均年龄为 52.55±12.7 岁。与健康对照组相比,IL-23R 基因 rs11805303(TT)、rs10889677(AA)、rs1004819(AA)和 rs7530511(CT)多态性的 IL-23R 基因型在 RA 患者中更为常见。IL-23R rs1004819 的 AA 基因型和 Il-23R rs7530511 的 CT 基因型增加了 RA 的发病风险,具有统计学意义(OR:3.416,p=0.003 和 OR:4.899,p=0.0001)。IL-23R 基因 rs11805303 的 CC 基因型、rs10889677 的 CC 基因型和 rs2201841 的 TT 基因型的 RA 患者红细胞沉降率(ESR)和 C 反应蛋白(CRP)水平高于其他基因型。IL-23R 基因 rs11805303 的 CC 基因型和 rs1004819 的 GG 基因型的 RA 患者疾病更为活跃。我们的研究结果表明,在我们的研究人群中,所有分析的 IL-23R 基因的九个多态性比健康对照组更为常见。此外,一些 SNP 与较高的急性期反应物和较高的疾病活动评分有关。