Journal
ENDOCRINE REVIEWS
Volume 40, Issue 6, Pages 1500-1520Publisher
ENDOCRINE SOC
DOI: 10.1210/er.2019-00088
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Funding
- Wellcome Trust [090532, 106130, 098381, 203141, 212259]
- National Institute of Diabetes and Digestive and Kidney Diseases [U01-DK105535]
- National Institute for Health Research Grant [NF-SI-0617-10090]
- National Institutes of Health [U01 DK105554, R01 GM117163, R01 DK105154, K24 DK110550, U54 DK118612]
- National Institutes of Health/National Institute of Diabetes and Digestive and Kidney Diseases [K23 1K23DK114551]
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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.
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