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Cited by 302Genetic Associations and EpidemiologyDiabetes and associated disordersNutrition, Genetics, and Disease

Genetic Risk Scores for Diabetes Diagnosis and Precision Medicine

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Udler, Miriam S, McCarthy, Mark I, Florez, Jose C, Mahajan, Anubha·2019·Endocrine Reviews
DOI 10.1210/er.2019-00088PMC PMC6760294
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Abstract

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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  • The failure to identify a qualitative or monogenic inheritance pattern and the findings from GWAS, Mendelian randomization, familial and twin studies suggest that the heritability of PCOS is likely due to the combination of multiple genes with small effect size.

    “The failure to identify a qualitative or monogenic inheritance pattern and the findings from GWAS, MR, familial and twin studies, suggests that the heritability of PCOS is likely to be due to the combination of multiple genes with small effect size, as has been found with obesity and type 2 diabetes [79,80,94,95,96].”

    From Polycystic Ovary Syndrome: An Evolutionary Adaptation to Lifestyle and the Environment (2022) · cites this paper as [95]

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Cited by

Sorted by citations

Authors
Udler, M. S., McCarthy, M. I., Florez, J. C., & Mahajan, A.
Affiliations
  • Broad Institute (US)
  • Centre for Human Genetics (GB)
  • Diabetes Unit, Massachusetts General Hospital, Boston, Massachusetts
Corresponding author
McCarthy, Mark I
ORCID
Venue
Endocrine Reviews
Publisher
The Endocrine Society
Published
2019-07-19
Volume
40
Issue
6
Pages
1500-1520
ISSN
  • 0163-769X (ISSN-L)
  • 1945-7189
DOI
10.1210/er.2019-00088
PMC
PMC6760294
OpenAlex
W2965934614
Cited by
302
References
19
Citations by year
2026: 24 · 2025: 26 · 2024: 48 · 2023: 46 · 2022: 61 · 2021: 63 · 2020: 29 · 2019: 4
FWCI
5.20
Type
journal article
Language
en
Open access
Licence
Locations
  • Endocrine Reviews (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
Funders
  • Wellcome Trust (090532, 106130, 098381, 203141, 212259)
  • National Institute of Diabetes and Digestive and Kidney Diseases (u01-DK105535, R01 DK105154, U01 DK105554, K24 DK110550, U54 DK118612, K23 1K23DK114551)
  • National Institute for Health Research (NF-SI-0617-10090)
  • National Institutes of Health (R01 GM117163)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Nutrition, Genetics, and Disease
Keywords
polygenic risk score, type 1 diabetes, type 2 diabetes, DNA sequence variants, diabetes risk prediction, differential diagnosis, phenotypic heterogeneity, clinical heterogeneity, precision medicine, disease susceptibility
MeSH terms
Diabetes Mellitus, Humans, Risk Assessment, Multifactorial Inheritance, Precision Medicine

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