Divisions of Human Genetics and Endocrinology, Children's Hospital of Philadelphia, Philadelphia, PA
Center for Spatial and Functional Genomics, Children's Hospital of Philadelphia, Philadelphia, PA.
Diabetes Care. 2019 Sep;42(9):1624-1629. doi: 10.2337/dci19-0001. Epub 2019 Aug 13.
Over the past ∼15 years there has been great progress in our understanding of the genetics of both type 1 diabetes and type 2 diabetes. This has been driven principally by genome-wide association studies (GWAS) in increasingly larger sample sizes, where many distinct loci have now been reported for both traits. One of the loci that dominates these studies is the locus for type 2 diabetes. This genetic signal has been leveraged to explore multiple aspects of disease risk, including developments in genetic risk scores, genetic commonalities with cancer, and for gaining insights into diabetes-related molecular pathways. Furthermore, the locus has aided in providing insights into the genetics of both latent autoimmune diabetes in adults and various presentations of type 1 diabetes. This review outlines the knowledge gained to date and highlights how work with this locus leads the way in guiding how many other genetic loci could be similarly used to gain insights into the pathogenesis of diabetes.
在过去的大约 15 年中,我们对 1 型糖尿病和 2 型糖尿病的遗传学有了更深入的了解。这主要是由于全基因组关联研究(GWAS)在不断增加的样本量中取得了进展,现在已经报道了许多不同的与这两种特征相关的基因座。其中一个主导这些研究的基因座是 2 型糖尿病的 基因座。这种遗传信号已被用于探索疾病风险的多个方面,包括遗传风险评分的发展、与癌症的遗传共性,以及深入了解与糖尿病相关的分子途径。此外,该基因座有助于深入了解成人隐匿性自身免疫性糖尿病和各种 1 型糖尿病的遗传学。这篇综述概述了迄今为止获得的知识,并强调了该基因座的工作如何为指导如何使用其他许多遗传基因座来深入了解糖尿病的发病机制提供了思路。