Immunogenetics Laboratory, University of Turku, Tykistökatu 6A, 20520, Turku, Finland.
Curr Diab Rep. 2012 Oct;12(5):447-55. doi: 10.1007/s11892-012-0310-7.
Type 1 diabetes (T1D) is an autoimmune disease causing the destruction of pancreatic beta cells. The onset of clinical T1D is preceded by a time period called pre-diabetes, the duration of which varies widely. However, not all subjects developing beta-cell autoimmunity progress to clinical T1D. The inherited risk for T1D is determined by the human leukocyte antigen (HLA) class II genes, HLA class I genes, and several loci outside the HLA area. Although the role of the genetic risk variants in disease pathogenesis is not completely understood, some of the variants affecting disease risk are thought to influence the initiation of beta-cell autoimmunity whereas others seem to play a role during the later stages of the autoimmune process. In this review we describe the current knowledge on the genetic factors mediating the fate of already-established beta-cell autoimmunity and the rate of beta-cell destruction.
1 型糖尿病（T1D）是一种自身免疫性疾病，可导致胰腺β细胞的破坏。临床 T1D 的发病前有一段时间称为糖尿病前期，其持续时间差异很大。然而，并非所有发生β细胞自身免疫的患者都进展为临床 T1D。T1D 的遗传风险由人类白细胞抗原（HLA）Ⅱ类基因、HLA Ⅰ类基因和 HLA 区域外的几个位点决定。尽管遗传风险变异在疾病发病机制中的作用尚未完全阐明，但一些影响疾病风险的变异被认为影响β细胞自身免疫的启动，而其他变异似乎在自身免疫过程的后期阶段发挥作用。在这篇综述中，我们描述了目前关于介导已确立的β细胞自身免疫命运和β细胞破坏速度的遗传因素的知识。
