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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Finding the missing heritability of complex diseases
Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., et al. (2009) · Nature · doi:10.1038/nature08494 · Cited by 8,336
Differential roles of MDA5 and RIG-I helicases in the recognition of RNA viruses
Kato, H., Takeuchi, O., Sato, S., Yoneyama, M., Yamamoto, M., Matsui, K., Uematsu, S., Jung, A., Kawai, T., Ishii, K. J., et al. (2006) · Nature · doi:10.1038/nature04734 · Cited by 3,888
Projection of an Immunological Self Shadow Within the Thymus by the Aire Protein
Anderson, M. S., Venanzi, E. S., Klein, L., Chen, Z.-B., Berzins, S., Turley, S., von Boehmer, H., Bronson, R., Dierich, A., Benoist, C., et al. (2002) · Science · doi:10.1126/science.1075958 · Cited by 2,582
Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease
Ueda, H., Howson, J. M. M., Esposito, L., Heward, J., Snook, Chamberlain, G., Rainbow, D. B., Hunter, K. M. D., Smith, A. N., Di Genova, G., et al. (2003) · Nature · doi:10.1038/nature01621 · Cited by 2,175
HLA-DQβ gene contributes to susceptibility and resistance to insulin-dependent diabetes mellitus
Todd, J. A., Bell, J. I., & McDevitt, H. O. (1987) · Nature · doi:10.1038/329599a0 · Cited by 2,036
Patterson, C. C., Dahlquist, G. G., Gyürüs, E., Green, A., & Soltész, G. (2009) · The Lancet · doi:10.1016/s0140-6736(09)60568-7 · Cited by 1,854
The Type 1 Diabetes Genetics Consortium, Barrett, J. C., Clayton, D. G., Concannon, P., Akolkar, B., Cooper, J. D., Erlich, H. A., Julier, C., Morahan, G., Nerup, J., et al. (2009) · Nature Genetics · doi:10.1038/ng.381 · Cited by 1,746
Genome structural variation discovery and genotyping
Alkan, C., Coe, B. P., & Eichler, E. E. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2958 · Cited by 1,630
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes
Finland, G. O. T. 1. D. I., Todd, J. A., the Wellcome Trust Case Control Consortium, Walker, N. M., Cooper, J. D., Smyth, D. J., Downes, K., Plagnol, V., Bailey, R., Nejentsev, S., et al. (2007) · Nature Genetics · doi:10.1038/ng2068 · Cited by 1,456
A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes
Bottini, N., Musumeci, L., Alonso, A., Rahmouni, S., Nika, K., Rostamkhani, M., MacMurray, J. P., Meloni, T., Lucarelli, P., Pellecchia, M., et al. (2004) · Nature Genetics · doi:10.1038/ng1323 · Cited by 1,419
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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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Casperson, S. L. (2019) · MDPI eBooks · doi:10.3390/books978-3-03897-813-8
Ferreri, C., & Chatgilialoglu, C. (2015) · Wiley eBooks · doi:10.1002/9781118683682.bref
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Louvigné, M., Decrequy, A., Donzeau, A., Bouhours‐Nouet, N., & Coutant, R. (2018) · EMC - Pediatría · doi:10.1016/s1245-1789(17)88072-0 · Cited by 1
The etiology of gut dysbiosis and its role in chronic disease
Danenberg, A. H. (2022) · Elsevier eBooks · doi:10.1016/b978-0-12-822238-6.00020-0
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Peterle, G., Carneiro, E. A., Vighini, A. L., Rodrigues, M. G. S., Colombi, V. H., & Paes, M. F. (2015) · Genética na Escola · doi:10.55838/1980-3540.ge.2015.214
Nandhini, L. P., Kamalanathan, S., & Sahoo, J. (2023) · Springer eBooks · doi:10.1007/978-3-031-25519-9_6
Aydemir, Ö., Bailey, J. A., Agardh, D., Lernmark, Å., Noble, J. A., Svärd, A. A., Blankenhorn, E. P., Parikh, H. M., Ziegler, A., Toppari, J., et al. (2026) · eLife · doi:10.7554/elife.89068.2
Molecular diagnosis of Type I diabetes in some Egyptian patients using HLA-DRB1 exon 2 gene
Z.Higazy, K., Abdel-Kareim, A. M., Alhusseini, N. F., & Awwad, M. H. (2022) · Benha Journal of Applied Sciences · doi:10.21608/bjas.2022.308845
Prasad, R. B. (2024) · Wiley eBooks · doi:10.1002/9781119697473.ch12
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Mustafin, R. N. (2024) · The Russian Archives of Internal Medicine · doi:10.20514/2226-6704-2023-13-6-413-421 · Cited by 1
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Mustafin, R. N. (2024) · Kazan medical journal · doi:10.17816/kmj601841
General principles of endocrine genetics
Polychronakos, C. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-13825-6.00026-1
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Hu, X., Huang, J. S., Yuan, J., Sun, Y., Wang, Y., Hu, Z., Jiang, J., Wang, Z., Wang, B. Y., Long, M., et al. (2026) · Cell Reports · doi:10.1016/j.celrep.2025.116882
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Khan, F., Akhtar, S., & Kumar, A. (2026) · Elsevier eBooks · doi:10.1016/b978-0-443-33590-7.00008-3
Ursavaş, S., Canbaz, H. T., Ay, E. N., Demirci, H., Pasin, Ö., Şekerci, A., Senol, E. Y., & Karaöz, E. (2026) · Cytotherapy · doi:10.1016/j.jcyt.2026.102953
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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