Genetics of type 1 diabetes
Open accessAbstract
Type 1 diabetes (T1D) results from immune-mediated loss of pancreatic beta cells leading to insulin deficiency. It is the most common form of diabetes in children, and its incidence is on the rise. This article reviews the current knowledge on the genetics of T1D. In particular, we discuss the influence of HLA and non-HLA genes on T1D risk and disease progression through the preclinical stages of the disease, and the development of genetic scores that can be applied to disease prediction. Racial/ethnic differences, challenges and future directions in the genetics of T1D are also discussed.
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The risk of type 1 diabetes in the general population may be determined by HLA-DQ typing, which contribute as much as 50% of familial susceptibility.
“The risk of type 1 diabetes in the general population may be determined by HLA-DQ typing, which contribute as much as 50% of familial susceptibility (400).”
From Guidelines and Recommendations for Laboratory Analysis in the Diagnosis and Management of Diabetes Mellitus (2023) · cites this paper as [400]
The HLA region section says the HLA region accounts for approximately 50% of familial aggregation of type 1 diabetes, with the strongest association at HLA-DR and HLA-DQ. The Genetic scores section discusses HLA-DR/DQ genotyping for risk prediction in children from the general population. The paper does not assign the full 50% contribution to HLA-DQ alone or say that HLA-DQ typing by itself determines risk. (LLM, conf=0.88)
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Wen, X., Yang, J., James, E., Chow, I.-T., Reijonen, H., & Kwok, W. W. (2020) · Science Immunology · doi:10.1126/sciimmunol.aax8767 · Cited by 35 · see citing works
(2024) · Journal of Community Medicine & Public Health · doi:10.29011/2577-2228.100460 · Cited by 19 · see citing works
- Authors
- Redondo, M. J., Steck, A. K., & Pugliese, A.
- Affiliations
- Baylor College of Medicine (US)
- University of Colorado Anschutz (US)
- University of Miami (US)
- Corresponding author
- Redondo, Maria J
- Venue
- Pediatric Diabetes
- Publisher
- Wiley
- Published
- 2017-11-02
- Volume
- 19
- Issue
- 3
- Pages
- 346-353
- ISSN
- 1399-543X (ISSN-L)
- 1399-5448
- PMC
- PMC5918237
- OpenAlex
- W2765622853
- Semantic Scholar
- e4da3ef7b7793c57866b7aecbf6624bf720278d9
- Cited by
- 216
- References
- 130
- Citations by year
- 2026: 12 · 2025: 30 · 2024: 30 · 2023: 37 · 2022: 34 · 2021: 27 · 2020: 18 · 2019: 13 · 2018: 13 · 2017: 2
- FWCI
- 1.61
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Pediatric Diabetes (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Diabetes and Digestive and Kidney Diseases (U01 DK103180‐01 (MJR))
- Diabetes Research Institute Foundation
- American Diabetes Association (1‐14‐CD‐17 (AKS))
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Diabetes Management and Research
- Keywords
- type 1 diabetes, genetic susceptibility, HLA genes, non-HLA genes, islet autoimmunity, disease progression, preclinical disease, polygenic risk score, disease prediction, racial and ethnic differences
- MeSH terms
- Diabetes Mellitus, Type 1, Humans, Major Histocompatibility Complex
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