Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi 712082, China; School of Basic Medical Sciences, Xizang Minzu University, Xianyang, Shaanxi 712082, China.
Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi 712082, China; School of Basic Medical Sciences, Xizang Minzu University, Xianyang, Shaanxi 712082, China; Key Laboratory of Resource Biology and Biotechnology in Western China, Ministry of Education, School of Medicine, Northwest University, Xi'an, Shaanxi 710069, China.
Int Immunopharmacol. 2020 Jun;83:106401. doi: 10.1016/j.intimp.2020.106401. Epub 2020 Mar 31.
Rheumatoid arthritis (RA) is a chronic, inflammatory synovitis dominated systemic disease with unknown etiology. The purpose of this study was to determine the relationship between IL1B polymorphisms and RA risk in a Chinese Han population. Four single-nucleotide polymorphisms (SNPs) of IL1B, rs2853550, rs1143643, rs3136558 and rs16944 were genotyped in 508 RA cases and 494 healthy controls using the Agena MassARRAY method. A genetic model analysis was performed to evaluate the relationships between the variants and RA risk. Haplotype analysis was used to evaluate the potential relationship between the genetic block and RA risk. We determined that rs1143643 was linked to a reduced risk of RA based on the results of the co-dominant model (OR = 0.67, 95%CI: 0.50-0.89, p = 0.006) and the dominant model (OR = 0.73, 95%CI = 0.56-0.96, p = 0.025). On the other hand, rs16944 was associated with an increased risk of RA in the co-dominant model (OR = 1.71, 95%CI = 1.53-1.97, p = 0.029) and the recessive model (OR = 1.41, 95%CI = 1.05-1.88, p = 0.021). Among individuals older than 50 years, we observed that rs2853550 was associated with an increased risk of RA, and that rs1143643 decreased RA risk. Furthermore, rs1143643 was associated with a decreased RA risk in female patients. However, rs16944 increased RA risk in both the co-dominant and the additive models in different age subgroups. In addition, rs16944-GA increased RA risk in males in the co-dominance model and rs16944-AA increased RA risk in females in the additive model. These results suggested that rs2853550, rs1143643, and rs16944 in the IL1B gene are associated with RA risk.
类风湿关节炎（RA）是一种病因不明的慢性、炎症性滑膜炎为主的系统性疾病。本研究旨在探讨中国汉族人群白细胞介素 1B（IL1B）基因多态性与 RA 发病风险的关系。采用 Agena MassARRAY 方法对 508 例 RA 患者和 494 例健康对照者的 IL1B 基因的 4 个单核苷酸多态性（SNPs）rs2853550、rs1143643、rs3136558 和 rs16944 进行基因分型。采用遗传模型分析评估变异与 RA 发病风险的关系。采用单体型分析评估遗传块与 RA 发病风险的潜在关系。结果显示，基于共显性模型（OR=0.67，95%CI：0.50-0.89，p=0.006）和显性模型（OR=0.73，95%CI：0.56-0.96，p=0.025），rs1143643 与 RA 发病风险降低相关。相反，rs16944 与共显性模型（OR=1.71，95%CI：1.53-1.97，p=0.029）和隐性模型（OR=1.41，95%CI：1.05-1.88，p=0.021）中 RA 发病风险增加相关。在年龄>50 岁的个体中，rs2853550 与 RA 发病风险增加相关，而 rs1143643 降低 RA 发病风险。此外，rs1143643 与女性患者 RA 发病风险降低相关。然而，rs16944 在不同年龄亚组的共显性和加性模型中均增加 RA 发病风险。此外，rs16944-GA 在共显性模型中增加男性 RA 发病风险，rs16944-AA 在加性模型中增加女性 RA 发病风险。这些结果提示 IL1B 基因中的 rs2853550、rs1143643 和 rs16944 与 RA 发病风险相关。
