The DOI matches its Crossref record; 20 of the 20 references it cites were found in a registry or an index.
Association of a putative regulatory polymorphism in the PD‐1 gene with susceptibility to type 1 diabetes
Abstract
The immunoreceptor programmed cell death-1 (PD-1) is reported to play an important role in the regulation of peripheral tolerance in rodents, and it was recently shown that a polymorphism in a regulatory site of the PD-1 gene is associated with susceptibility to the autoimmune disease systemic lupus erythematosus (SLE) in humans. We investigated the existence of single-nucleotide polymorphisms (SNPs) in the PD-1 gene in patients with type 1 diabetes in comparison with healthy control subjects, by analyzing 94 children and adolescents with type 1 diabetes diagnosed before their eighteenth birthday (male : female = 52 : 42) and 155 control subjects. Polymorphisms in the complete PD-1 gene (minus the large intron 1) were detected by sequencing. In total, we identified 14 SNPs, of which six have been previously described, including an intronic 7146G/A SNP. We found this polymorphism to be associated with the development of type 1 diabetes [found in 12.2% of diabetic individuals vs 6.8% in controls; odds ratio (OR) = 1.92]. The associated allele is previously shown to alter a transcription factor-binding site (RUNX1/AML1), and the results of this study suggest that this allele could act as an additional susceptibility allele to type 1 diabetes.
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“Humans with genetic polymorphisms in the PD-1 locus also have an increased likelihood of developing various autoimmune diseases (51, 52).”
From Anti-PD-1 and Anti-CTLA-4 Therapies in Cancer: Mechanisms of Action, Efficacy, and Limitations (2018) · cites this paper as [51]
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CD4+CD25high Regulatory Cells in Human Peripheral Blood
Baecher‐Allan, C., Brown, J. A., Freeman, G. J., & Hafler, D. A. (2001) · The Journal of Immunology · doi:10.4049/jimmunol.167.3.1245 · Cited by 1,889
Autoimmune Dilated Cardiomyopathy in PD-1 Receptor-Deficient Mice
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Greenwald, R. J., Freeman, G. J., & Sharpe, A. H. (2005) · Annual Review of Immunology · doi:10.1146/annurev.immunol.23.021704.115611 · Cited by 2,318
The function of programmed cell death 1 and its ligands in regulating autoimmunity and infection
Sharpe, A. H., Wherry, E. J., Ahmed, R., & Freeman, G. J. (2007) · Nature Immunology · doi:10.1038/ni1443 · Cited by 1,559
Anti-PD-1 and Anti-CTLA-4 Therapies in Cancer: Mechanisms of Action, Efficacy, and Limitations
Seidel, J. A., Otsuka, A., & Kabashima, K. (2018) · Frontiers in Oncology · doi:10.3389/fonc.2018.00086 · Cited by 1,360
PD-1 and PD-1 ligands: from discovery to clinical application
Okazaki, T., & Honjo, T. (2007) · International Immunology · doi:10.1093/intimm/dxm057 · Cited by 1,310
Control of peripheral T‐cell tolerance and autoimmunity via the CTLA‐4 and PD‐1 pathways
Fife, B. T., & Bluestone, J. A. (2008) · Immunological Reviews · doi:10.1111/j.1600-065x.2008.00662.x · Cited by 1,081
Metadata
- Authors
- Nielsen, C., Hansen, D., Husby, S., Jacobsen, B. B., & Lillevang, S. T.
- Affiliations
- Odense University Hospital (DK)
- Corresponding author
- Lillevang, S.T.
- Venue
- Tissue Antigens
- Publisher
- Wiley
- Published
- 2003-11-11
- Volume
- 62
- Issue
- 6
- Pages
- 492-497
- ISSN
- 0001-2815 (ISSN-L)
- 1399-0039
- OpenAlex
- W2082012343
- Cited by
- 232
- References
- 20
- Citations by year
- 2026: 2 · 2025: 4 · 2024: 3 · 2023: 5 · 2022: 6 · 2021: 13 · 2020: 12 · 2019: 8 · 2018: 9 · 2017: 6 · 2016: 8 · 2015: 9 · 2014: 8 · 2013: 13 · 2012: 9
- FWCI
- 7.40
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Tissue Antigens (publishedVersion)
- PubMed (publishedVersion)
- University of Southern Denmark Research Portal (University of Southern Denmark) (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, single nucleotide polymorphisms, genetic susceptibility, regulatory polymorphisms, transcription factor binding sites, peripheral tolerance, autoimmune disease, children and adolescents
- MeSH terms
- Adolescent, Alleles, Antigens, Surface, Child, Diabetes Mellitus, Type 1, Female, Gene Frequency, Humans, Lupus Erythematosus, Systemic, Male, Antigens, CD, Linkage Disequilibrium, Case-Control Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Apoptosis Regulatory Proteins, Programmed Cell Death 1 Receptor
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