Association of a putative regulatory polymorphism in the PD‐1 gene with susceptibility to type 1 diabetes

Nielsen, C.; Hansen, D.; Husby, S.; Jacobsen, B.B.; Lillevang, S.T.

doi:10.1046/j.1399-0039.2003.00136.x

Cited by 232Diabetes and associated disordersGenetic Associations and EpidemiologyT-cell and B-cell Immunology

Association of a putative regulatory polymorphism in the PD‐1 gene with susceptibility to type 1 diabetes

Nielsen, C., Hansen, D., Husby, S., Jacobsen, B.B., Lillevang, S.T.·2003·Tissue Antigens

DOI 10.1046/j.1399-0039.2003.00136.x

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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 have an increased likelihood of developing various autoimmune diseases.
“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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Authors: Nielsen, C., Hansen, D., Husby, S., Jacobsen, B. B., & Lillevang, S. T.
Affiliations: Odense University Hospital (DK)
Corresponding author: Lillevang, S.T.
ORCID: Nielsen, C.
Husby, S.
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
DOI: 10.1046/j.1399-0039.2003.00136.x
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
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor)
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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Association of a putative regulatory polymorphism in the PD‐1 gene with susceptibility to type 1 diabetes

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