Department of Rheumatology and Immunology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.
Inflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, Anhui, China.
Biomed Res Int. 2021 May 7;2021:6683148. doi: 10.1155/2021/6683148. eCollection 2021.
The aim of our study was to investigate the association of single-nucleotide polymorphism (SNP) and mRNA expression profile of () in rheumatoid arthritis (RA) in a Chinese population.
polymorphism was genotyped using TaqMan allelic discrimination assay in 517 RA patients and 601 healthy controls. Simultaneously, the SIGIRR mRNA expression levels of 79 RA patients and 76 healthy controls were examined by real-time quantitative polymerase chain reaction (RT-qPCR).
The frequency of T allele was significantly higher in RA patients compared with healthy controls (T versus G: OR = 1.277, 95%CI = 1.079 - 1.511, = 0.004). The TT genotype of rs7396562 was more frequent in RA patients than in healthy controls (OR = 1.547, 95%CI = 1.107 - 2.163, = 0.011). Moreover, we also found a significant difference in the recessive model (TT versus TG+GG: OR = 1.439, 95%CI = 1.122 - 1.847, = 0.004). However, no significant evidence was observed for the association of the with RA in dominant model (TT+TG versus GG: OR = 1.275, 95%CI = 0.947 - 1.717, = 0.109). Further analysis showed no association between polymorphism and laboratory parameters of RA patients (all > 0.05). The mRNA expression of SIGIRR was decreased in PBMCs of patients with RA when compared to healthy controls ( = -2.459, = 0.014). No significant differences in SIGIRR mRNA expression levels were observed in patients with RA with different genotypes ( = 0.280).
Our findings demonstrated that the dysregulation of SIGIRR might be associated with the pathogenesis of RA, and polymorphism might contribute to RA susceptibility in the Chinese population.
本研究旨在探讨中国人群中单一核苷酸多态性（SNP）和 mRNA 表达谱与 SIGIRR（ ）在类风湿关节炎（RA）中的关联。
采用 TaqMan 等位基因鉴别检测法对 517 例 RA 患者和 601 例健康对照者的 多态性进行基因分型。同时，采用实时定量聚合酶链反应（RT-qPCR）检测 79 例 RA 患者和 76 例健康对照者的 SIGIRR mRNA 表达水平。
与健康对照组相比，RA 患者 T 等位基因的频率明显升高（T 对 G：OR=1.277，95%CI=1.079-1.511， =0.004）。rs7396562 的 TT 基因型在 RA 患者中比在健康对照组中更为常见（OR=1.547，95%CI=1.107-2.163， =0.011）。此外，我们还发现在隐性模型中存在显著差异（TT 对 TG+GG：OR=1.439，95%CI=1.122-1.847， =0.004）。然而，在显性模型中， 与 RA 之间没有观察到显著的关联（TT+TG 对 GG：OR=1.275，95%CI=0.947-1.717， =0.109）。进一步分析表明， 多态性与 RA 患者的实验室参数无关（均 >0.05）。与健康对照组相比，RA 患者 PBMCs 中的 SIGIRR mRNA 表达降低（ =-2.459， =0.014）。不同基因型的 RA 患者的 SIGIRR mRNA 表达水平无显著差异（ =0.280）。
我们的研究结果表明，SIGIRR 的失调可能与 RA 的发病机制有关，而 多态性可能与中国人群的 RA 易感性有关。
