Departments of Pediatrics and Human Genetics, McGill University, Montreal, Québec, Canada H3H 1P3. Constantin.
Nat Rev Genet. 2011 Oct 18;12(11):781-92. doi: 10.1038/nrg3069.
Starting with early crucial discoveries of the role of the major histocompatibility complex, genetic studies have long had a role in understanding the biology of type 1 diabetes (T1D), which is one of the most heritable common diseases. Recent genome-wide association studies (GWASs) have given us a clearer picture of the allelic architecture of genetic susceptibility to T1D. Fine mapping and functional studies are gradually revealing the complex mechanisms whereby immune self-tolerance is lost, involving multiple aspects of adaptive immunity. The triggering of these events by dysregulation of the innate immune system has also been implicated by genetic evidence. Finally, genetic prediction of T1D risk is showing promise of use for preventive strategies.
从主要组织相容性复合体作用的早期关键发现开始，遗传研究在理解 1 型糖尿病（T1D）的生物学特性方面一直发挥着作用，T1D 是最具遗传性的常见疾病之一。最近的全基因组关联研究（GWAS）使我们更清楚地了解了 T1D 遗传易感性的等位基因结构。精细定位和功能研究逐渐揭示了免疫自身耐受丧失的复杂机制，涉及适应性免疫的多个方面。遗传证据也表明，先天免疫系统失调引发了这些事件。最后，T1D 风险的遗传预测显示出在预防策略中的应用前景。
