Verdaguer J, Amrani A, Anderson B, Schmidt D, Santamaria P
Department of Microbiology and Infectious Diseases, Julia McFarlane Diabetes Research Centre, Faculty of Medicine, University of Calgary, Alberta, Canada.
J Immunol. 1999 Apr 15;162(8):4614-26.
Genetic susceptibility and resistance to most autoimmune disorders are associated with highly polymorphic genes of the MHC and with non-MHC-linked polygenic modifiers. It is known that non-MHC-linked polymorphisms can override or enhance the susceptibility to an autoimmune disease provided by pathogenic MHC genes, but the mechanisms remain elusive. In this study, we have followed the fate of two highly diabetogenic beta cell-specific T cell receptors (Kd and I-Ag7 restricted, respectively) in NOR/Lt mice, which are resistant to autoimmune diabetes despite expressing two copies of the diabetogenic MHC haplotype H-2g7. We show that at least two mechanisms of non-MHC-linked control of pathogenic T cells operate in these mice. One segregates as a recessive trait and is associated with a reduction in the peripheral frequency of diabetogenic CD8+ (but not CD4+) T cells. The other segregates as a dominant trait and is mediated by IL-4- and TGF-beta1-independent immune suppressive functions provided by lymphocytes that target diabetogenic CD4+ and CD8+ T cells, without causing their deletion, anergy, immune deviation, or ignorance. These results provide explanations as to how non-MHC-linked polymorphisms can override the susceptibility to an autoimmune disease provided by pathogenic MHC haplotypes, and demonstrate that protective non-MHC-linked genes may selectively target specific lymphoid cell types in cellularly complex autoimmune responses.
对大多数自身免疫性疾病的遗传易感性和抗性与主要组织相容性复合体(MHC)的高度多态性基因以及与非MHC连锁的多基因修饰因子相关。已知非MHC连锁的多态性可以覆盖或增强由致病性MHC基因所提供的对自身免疫性疾病的易感性,但其机制仍不清楚。在本研究中,我们追踪了两种高度致糖尿病的β细胞特异性T细胞受体(分别受Kd和I-Ag7限制)在NOR/Lt小鼠中的命运,这些小鼠尽管表达了两份致糖尿病的MHC单倍型H-2g7,但对自身免疫性糖尿病具有抗性。我们表明,在这些小鼠中至少有两种非MHC连锁的致病性T细胞控制机制在起作用。一种作为隐性性状分离,与致糖尿病的CD8+(而非CD4+)T细胞外周频率的降低有关。另一种作为显性性状分离,由靶向致糖尿病的CD4+和CD8+ T细胞的淋巴细胞提供的不依赖IL-4和TGF-β1的免疫抑制功能介导,不会导致它们的缺失、无反应性、免疫偏离或忽视。这些结果解释了非MHC连锁的多态性如何能够覆盖由致病性MHC单倍型所提供的对自身免疫性疾病的易感性,并证明了保护性非MHC连锁基因可能在细胞复杂的自身免疫反应中选择性地靶向特定的淋巴细胞类型。