The DOI matches its Crossref record; 98 of the 98 references it cites were found in a registry or an index.
Understanding type 1 diabetes through genetics: advances and prospects
Abstract
Starting with early crucial discoveries of the role of the major histocompatibility complex, genetic studies have long had a role in understanding the biology of type 1 diabetes (T1D), which is one of the most heritable common diseases. Recent genome-wide association studies (GWASs) have given us a clearer picture of the allelic architecture of genetic susceptibility to T1D. Fine mapping and functional studies are gradually revealing the complex mechanisms whereby immune self-tolerance is lost, involving multiple aspects of adaptive immunity. The triggering of these events by dysregulation of the innate immune system has also been implicated by genetic evidence. Finally, genetic prediction of T1D risk is showing promise of use for preventive strategies.
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“Of the remaining loci, only those for the insulin VNTR, PTPN22, CTLA4, and IL2RA are associated with odds ratios greater than 1·1.75”
From Type 1 diabetes (2014) · cites this paper as [75]
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Differential roles of MDA5 and RIG-I helicases in the recognition of RNA viruses
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Projection of an Immunological Self Shadow Within the Thymus by the Aire Protein
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HLA-DQβ gene contributes to susceptibility and resistance to insulin-dependent diabetes mellitus
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Genome structural variation discovery and genotyping
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Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes
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- Zouk, H., Marchand, L. & Polychronakos, C. Study of transcriptional effects in cis at the IFIH1 locus. PLoS ONE 5, e11564 (2010). · DOI
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Atkinson, M. A., Eisenbarth, G. S., & Michels, A. W. (2014) · The Lancet · doi:10.1016/s0140-6736(13)60591-7 · Cited by 2,931
Visscher, P. M., Brown, M. A., McCarthy, M. I., & Yang, J. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.11.029 · Cited by 2,425
Katsarou, A., Gudbjörnsdottir, S., Rawshani, A., Dabelea, D., Bonifacio, E., Anderson, B. J., Jacobsen, L. M., Schatz, D. A., & Lernmark, Å. (2017) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2017.16 · Cited by 1,475
Pancreatic β-cells in type 1 and type 2 diabetes mellitus: different pathways to failure
Eizirik, D. L., Pasquali, L., & Cnop, M. (2020) · Nature Reviews Endocrinology · doi:10.1038/s41574-020-0355-7 · Cited by 854
Pitfalls of predicting complex traits from SNPs
Wray, N. R., Yang, J., Hayes, B. J., Price, A. L., Goddard, M. E., & Visscher, P. M. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3457 · Cited by 690
Metadata
- Authors
- Polychronakos, C., & Li, Q.
- Affiliations
- McGill University (CA)
- Corresponding author
- Polychronakos, Constantin
- Venue
- Nature Reviews Genetics
- Published
- 2011-10-18
- Volume
- 12
- Issue
- 11
- Pages
- 781-792
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W2166110465
- Cited by
- 226
- References
- 98
- Citations by year
- 2026: 5 · 2025: 2 · 2024: 10 · 2023: 12 · 2022: 11 · 2021: 16 · 2020: 12 · 2019: 12 · 2018: 11 · 2017: 17 · 2016: 23 · 2015: 17 · 2014: 18 · 2013: 32 · 2012: 26
- FWCI
- 2.62
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- 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
- Life Sciences › Immunology and Microbiology › Immunology › T-cell and B-cell Immunology
- Keywords
- type 1 diabetes, genetic susceptibility, genetic susceptibility loci, major histocompatibility complex, self-tolerance, adaptive immunity, innate immune dysregulation, fine mapping, genetic risk prediction, disease prevention
- MeSH terms
- Alleles, Animals, Diabetes Mellitus, Type 1, Disease Models, Animal, Humans, Immune Tolerance, Immunity, Innate, Major Histocompatibility Complex, Genetic Predisposition to Disease, Quantitative Trait Loci, Genome-Wide Association Study
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