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During the last decade, there have been substantial advances in the identification and characterization of DNA sequence variants associated with individual predisposition to type 1 and type 2 diabetes. As well as providing insights into the molecular, cellular, and physiological mechanisms involved in disease pathogenesis, these risk variants, when combined into a polygenic score, capture information on individual patterns of disease predisposition that have the potential to influence clinical management. In this review, we describe the various opportunities that polygenic scores provide: to predict diabetes risk, to support differential diagnosis, and to understand phenotypic and clinical heterogeneity. We also describe the challenges that will need to be overcome if this potential is to be fully realized.

Original publication

DOI

10.1210/er.2019-00088

Type

Journal article

Journal

Endocrine reviews

Publication Date

12/2019

Volume

40

Pages

1500 - 1520

Addresses

Diabetes Unit, Massachusetts General Hospital, Boston, Massachusetts.