The Genetic Epidemiology of Type 2 Diabetes: Opportunities for Health Translation
Open accessAbstract
Purpose of review Genome-wide association studies have delineated the genetic architecture of type 2 diabetes. While functional studies to identify target transcripts are ongoing, new genetic knowledge can be translated directly to health applications. The review covers several translation directions but focuses on genomic polygenic scores for screening and prevention. Recent findings Over 400 genomic variants associated with T2D and its related quantitative traits are now known. Genetic scores comprising dozens to millions of associated variants can predict incident T2D. However, measurement of body mass index is more efficient than genetic scores to detect T2D risk groups, and knowledge of T2D genetic risk alone seems insufficient to improve health. Genetically determined metabolic sub-phenotypes can be identified by clustering variants associated with physiological axes like insulin resistance. Genetic sub-phenotyping may be a way forward to identify specific individual phenotypes for prevention and treatment. Genomic polygenic scores for T2D can predict incident diabetes but may not be useful to improve health overall. Genetic detection of T2D sub-phenotypes could be useful to personalize screening and care.
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Risk factors for type 2 diabetes include overweight and obesity, physical inactivity, age, family history, race and ethnicity, history of gestational diabetes, and presence of other conditions (eg, hypertension, dyslipidemia, cardiovascular disease).
“Risk factors for type 2 diabetes include overweight and obesity, physical inactivity, age, family history, race and ethnicity, history of gestational diabetes, and presence of other conditions (eg, hypertension, dyslipidemia, cardiovascular disease).9–14”
From Diagnosis and Treatment of Type 2 Diabetes in Adults (2025) · cites this paper as [13]
The “Genomic Risk Scores for Prediction and Personalization” section describes a type 2 diabetes prediction model using age, parental diabetes, BMI, blood pressure, HDL cholesterol, and triglycerides. The “Genomic Polygenic Prediction” section also links obesity to elevated risk. Our copy does not establish physical inactivity, gestational diabetes, or cardiovascular disease as risk factors, so it does not support the full list. (LLM, conf=0.87)
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Cites
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- Authors
- Meigs, J. B.
- Affiliations
- Broad Institute (US)
- Corresponding author
- Meigs, James B.
- ORCID
- Meigs, James B.
- Venue
- Current Diabetes Reports
- Published
- 2019-07-22
- Volume
- 19
- Issue
- 8
- Pages
- 62-62
- ISSN
- 1534-4827 (ISSN-L)
- 1539-0829
- PMC
- PMC8059416
- OpenAlex
- W2963636941
- Cited by
- 82
- References
- 6
- Citations by year
- 2026: 11 · 2025: 11 · 2024: 15 · 2023: 18 · 2022: 13 · 2021: 6 · 2020: 5 · 2019: 2 · 2018: 1
- FWCI
- 0.88
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Current Diabetes Reports (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Diabetes and Digestive and Kidney Diseases (U01DK078616, UM1DK078616)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Nutrition, Genetics, and Disease
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
- Keywords
- type 2 diabetes, genetic epidemiology, polygenic risk score, genome-wide association study, diabetes risk prediction, diabetes screening, diabetes prevention, body mass index, insulin resistance, personalized medicine
- MeSH terms
- Diabetes Mellitus, Type 2, Humans, Insulin Resistance, Molecular Epidemiology, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genome-Wide Association Study
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