白细胞介素-4 受体基因多态性与埃及女性类风湿关节炎的关联。
Association of interleukin-4 receptor gene polymorphisms with rheumatoid arthritis in Egyptian female patients.
机构信息
Medical biochemistry department, Faculty of medicine, Zagazig University, Zagazig, Egypt.
出版信息
Joint Bone Spine. 2012 Jan;79(1):38-42. doi: 10.1016/j.jbspin.2011.02.017. Epub 2011 Apr 15.
OBJECTIVES
The imbalance between proinflammatory and anti-inflammatory cytokines is a feature of rheumatoid arthritis (RA). The role of interleukin-4 (IL-4) and its receptor in the pathogenesis of RA is conflicting. We aim to investigate the role of polymorphisms in the IL-4Rα gene in susceptibility and severity of RA.
METHODS
One hundred and seventy-two RA patients and 172 controls were enrolled in the study. Genotyping of IL-4Rα I50V (rs1805010) and IL-4Rα Q576R (rs1801275) was determined by restriction fragment length polymorphism-polymerase chain reaction (PCR-RFLP).
RESULTS
IL-4Rα I50V genotype was significantly more frequent in patients with RA than in controls (OR: 1.97, 95% CI: 1-3.7, P: 0.035). Subjects with IL-4Rα V50V genotype were significantly more likely to have erosive arthropathy (OR: 2.6, 95% CI: 1.1-6.1, P: 0.02). The frequencies of IL-4Rα Q576R genotype were significantly decreased in patients with erosive RA compared to patients with nonerosive RA (31.6% versus 48.2%, OR: 2.7, 95% CI: 1-7.7, P: 0.04).
CONCLUSION
IL-4Rα polymorphisms were associated with susceptibility to RA and may be helpful in early detection of erosive RA.
目的
促炎细胞因子与抗炎细胞因子之间的失衡是类风湿关节炎（RA）的一个特征。白细胞介素-4（IL-4）及其受体在 RA 发病机制中的作用存在冲突。我们旨在研究 IL-4Rα 基因多态性在 RA 易感性和严重程度中的作用。
方法
本研究纳入了 172 例 RA 患者和 172 名对照。通过限制性片段长度多态性-聚合酶链反应（PCR-RFLP）检测 IL-4Rα I50V（rs1805010）和 IL-4Rα Q576R（rs1801275）的基因分型。
结果
与对照组相比，RA 患者中 IL-4Rα I50V 基因型明显更为常见（OR：1.97，95%CI：1-3.7，P：0.035）。携带 IL-4Rα V50V 基因型的患者发生侵蚀性关节炎的可能性明显更高（OR：2.6，95%CI：1.1-6.1，P：0.02）。与非侵蚀性 RA 患者相比，侵蚀性 RA 患者中 IL-4Rα Q576R 基因型的频率明显降低（31.6%对 48.2%，OR：2.7，95%CI：1-7.7，P：0.04）。
结论
IL-4Rα 多态性与 RA 的易感性相关，可能有助于早期发现侵蚀性 RA。
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