New insights on the genetics of type 1 diabetes

The genetic risk for type 1 diabetes has been studied for over half a century, with the strong genetic associations of type 1 diabetes forming critical evidence for the role of the immune system in pathogenesis. In this review, we discuss some of the original research leading to recent developments in type 1 diabetes genetics.

We examine the translation of polygenic scores for type 1 diabetes into tools for prediction and diagnosis of type 1 diabetes, in particular, when used in combination with other biomarkers and clinical features, such as age and islet-specific autoantibodies. Furthermore, we review the description of age associations with type 1 diabetes genetic risk, and the investigation of loci linked to type 2 diabetes in progression of type 1 diabetes. Finally, we consider current limitations, including the scarcity of data from racial and ethnic minorities, and future directions.

The development of polygenic risk scores has allowed the integration of type 1 diabetes genetics into diagnosis and prediction. Emerging information on the role of specific genes in subgroups of individuals with the disease, for example, early-onset, mild autoimmunity, and so forth, is facilitating our understanding of the heterogeneity of type 1 diabetes, with the ultimate goal of using genetic information in research and clinical practice.