Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA.
Ann N Y Acad Sci. 2013 Apr;1281(1):1-15. doi: 10.1111/nyas.12021. Epub 2013 Jan 29.
Type 1 diabetes (T1D) is an autoimmune disease characterized by known genetic risk factors with T cell-mediated infiltration and destruction of the beta cells within pancreatic islets. Autoantibodies are the most significant preclinical marker of T1D, and birth cohort studies have provided important insights into the natural history of autoimmunity and T1D. While HLA remains the strongest genetic risk factor, a number of novel gene variants associated with T1D have been found through genome-wide studies, some of which have been linked to suspected environmental risk factors. Multiple environmental factors that have been suggested to play a role in the development of T1D await confirmation. Current risk-stratification models for T1D take into account genetic risk factors and autoantibodies. In the future, metabolic profiles, epigenetics, as well as environmental risk factors may be included in such models.
1 型糖尿病（T1D）是一种自身免疫性疾病，其特征是存在已知的遗传风险因素，T 细胞介导的胰腺胰岛内β细胞浸润和破坏。自身抗体是 T1D 的最重要的临床前标志物，出生队列研究为自身免疫和 T1D 的自然史提供了重要的见解。虽然 HLA 仍然是最强的遗传风险因素，但通过全基因组研究发现了一些与 T1D 相关的新的基因变异，其中一些与可疑的环境风险因素有关。还有一些被认为在 T1D 发展中起作用的多种环境因素仍有待证实。目前用于 T1D 的风险分层模型考虑了遗传风险因素和自身抗体。在未来，代谢谱、表观遗传学以及环境风险因素可能会被纳入此类模型中。
