Department of Molecular Biology, National Institute of Geriatrics, Rheumatology and Rehabilitation, Warsaw, Poland.
Department of Pharmacology, Pomeranian Medical University, Szczecin, Poland; Department of Biochemistry and Medical Chemistry, Pomeranian Medical University, Szczecin, Poland.
Med Clin (Barc). 2018 Sep 14;151(5):191-195. doi: 10.1016/j.medcli.2017.11.029. Epub 2018 Jan 19.
Rheumatoid arthritis (RA) is an autoimmune diseases, where different genetic variants in cytokine genes may play a pathogenic role. A GWAS in autoimmune diseases highlighted the IL-23R gene as a one of the susceptibility factors. We examined three candidate single nucleotide polymorphisms (SNPs) rs10889677, rs11209026 and rs2201841 of the IL-23R gene, as well as determined their possible association with RA in a Polish population.
The IL-23R gene polymorphisms were genotyped for 422 RA patients and 348 healthy individuals using TaqMan SNP genotyping assay.
The genotypes frequency did not deviate from HWE in each examined group. A comparison of the allele as well as genotype frequencies of the IL-23R polymorphisms under codominant, dominant and recessive genetic model revealed no significant differences between RA patients and healthy subjects. We also demonstrated that IL-23R rs2201841 and rs11209026 as well as rs11209026 and rs10889677 were in complete linkage disequilibrium (D'=1.0). Our genotype-phenotype analysis demonstrated that in carriers of rs10889677C and/or rs2201841A allele the RF, extra-articular manifestations and erosion were more frequent present than in patients with rs10889677A and/or rs2201841A allele, although this association was not significant.
Present findings indicated that the autoimmune disease-associated genetic variants in IL-23R gene are not associated with RA in the Polish population.
类风湿关节炎（RA）是一种自身免疫性疾病，其中细胞因子基因中的不同遗传变异可能发挥致病作用。自身免疫性疾病的 GWAS 强调了 IL-23R 基因是易感性因素之一。我们研究了 IL-23R 基因的三个候选单核苷酸多态性（SNP）rs10889677、rs11209026 和 rs2201841，以及它们在波兰人群中与 RA 的可能关联。
使用 TaqMan SNP 基因分型检测，对 422 名 RA 患者和 348 名健康个体进行了 IL-23R 基因多态性检测。
每个检查组的基因型频率均未偏离 HWE。在共显性、显性和隐性遗传模型下比较 IL-23R 多态性的等位基因和基因型频率，RA 患者和健康对照之间没有显著差异。我们还表明，IL-23R rs2201841 和 rs11209026 以及 rs11209026 和 rs10889677 完全连锁不平衡（D'=1.0）。我们的基因型-表型分析表明，在 rs10889677C 和/或 rs2201841A 等位基因携带者中，RF、关节外表现和侵蚀更为常见，而 rs10889677A 和/或 rs2201841A 等位基因携带者则不然，尽管这种关联没有统计学意义。
目前的研究结果表明，IL-23R 基因中的自身免疫性疾病相关遗传变异与波兰人群中的 RA 无关。
