Department of Environmental Health, University of Cincinnati, 3223 Eden Avenue, P.O. Box 670056, Cincinnati, OH 45267, United States.
Immunol Lett. 2012 Sep;147(1-2):10-7. doi: 10.1016/j.imlet.2012.07.003. Epub 2012 Jul 24.
Both genetic and environmental factors contribute to the development and progression of systemic lupus erythematosus (SLE), a complex autoimmune disease. The disease exhibits a strong gender bias and develops predominantly in females. Additionally, most SLE patients exhibit increased serum levels of interferon-α (IFN-α) and the "IFN signature". Studies using the mouse models of lupus have identified several lupus susceptibility loci, including the New Zealand Black (NZB)-derived autoimmunity 2 (Nba2) interval on the chromosome 1. The interval, which is syntenic to the human chromosome 1q region, harbors the FcγR family, SLAM/CD2-family, and the IFN-inducible Ifi200-family genes (encoding for the p200-family proteins). Studies involving the B6.Nba2 congenic mice revealed that the development of antinuclear autoantibodies (ANAs) depends on the age, gender, and activation of type I IFN-signaling. Interestingly, recent studies involving the generation of Nba2 subcongenic mouse lines and generation of mice deficient for the Fcgr2b or Aim2 gene within the interval have provided evidence that epistatic interactions among the Nba2 genes contribute to increased lupus susceptibility. Given that the expression of some of the p200-family proteins is differentially regulated by sex hormones and these proteins differentially regulate cytosolic DNA-induced production of type I IFN and proinflammatory cytokines (IL-1β and IL-18), the major known contributors of SLE-associated inflammation, we discuss the recent advancements in our understanding of the role of p200-family proteins in lupus susceptibility modification. An improved understanding of the role of p200-family proteins in the development of autoimmunity is likely to identify new approaches to treat SLE patients.
遗传和环境因素共同导致系统性红斑狼疮(SLE)的发生和发展,SLE 是一种复杂的自身免疫性疾病。该疾病存在明显的性别偏向,主要发生在女性中。此外,大多数 SLE 患者的血清干扰素-α(IFN-α)水平和“IFN 特征”升高。使用狼疮小鼠模型的研究已经确定了几个狼疮易感性基因座,包括来自新西兰黑色(NZB)的自身免疫 2(Nba2)间隔在染色体 1 上。该间隔与人类染色体 1q 区域同源,包含 FcγR 家族、SLAM/CD2 家族和 IFN 诱导的 Ifi200 家族基因(编码 p200 家族蛋白)。涉及 B6.Nba2 同基因小鼠的研究表明,核自身抗体(ANA)的发展取决于年龄、性别和 I 型 IFN 信号的激活。有趣的是,最近涉及 Nba2 亚同基因小鼠系的产生和该间隔内 Fcgr2b 或 Aim2 基因缺失小鼠的产生的研究提供了证据,表明 Nba2 基因之间的上位相互作用有助于增加狼疮易感性。鉴于一些 p200 家族蛋白的表达受到性激素的差异调节,并且这些蛋白差异调节细胞质 DNA 诱导的 I 型 IFN 和促炎细胞因子(IL-1β和 IL-18)的产生,这是 SLE 相关炎症的主要已知贡献者,我们讨论了最近在理解 p200 家族蛋白在狼疮易感性修饰中的作用方面的进展。对 p200 家族蛋白在自身免疫发展中作用的更好理解可能会确定治疗 SLE 患者的新方法。