Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease
Abstract
Genes and mechanisms involved in common complex diseases, such as the autoimmune disorders that affect approximately 5% of the population, remain obscure. Here we identify polymorphisms of the cytotoxic T lymphocyte antigen 4 gene (CTLA4)--which encodes a vital negative regulatory molecule of the immune system--as candidates for primary determinants of risk of the common autoimmune disorders Graves' disease, autoimmune hypothyroidism and type 1 diabetes. In humans, disease susceptibility was mapped to a non-coding 6.1 kb 3' region of CTLA4, the common allelic variation of which was correlated with lower messenger RNA levels of the soluble alternative splice form of CTLA4. In the mouse model of type 1 diabetes, susceptibility was also associated with variation in CTLA-4 gene splicing with reduced production of a splice form encoding a molecule lacking the CD80/CD86 ligand-binding domain. Genetic mapping of variants conferring a small disease risk can identify pathways in complex disorders, as exemplified by our discovery of inherited, quantitative alterations of CTLA4 contributing to autoimmune tissue destruction.
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Polymorphism of CTLA-4 is known to increase the risk of autoimmune susceptibility including Graves' disease, but how it interacts with ICPis is unclear.
“Polymorphism of CTLA-4 is known to increase the risk of autoimmune susceptibility including Graves’ disease, but how it interacts with ICPis is unclear [32,33,34].”
From Graves’ Disease during Immune Checkpoint Inhibitor Therapy (A Case Series and Literature Review) (2021) · cites this paper as [34]
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- Authors
- 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., Herr, M. H., Dahlman, I., Payne, F., Smyth, D., Lowe, C., Twells, R. C. J., Howlett, S., Healy, B., Nutland, S., Rance, H. E., Everett, V., Smink, L. J., Lam, A. C., Cordell, H. J., Walker, N. M., Bordin, C., Hulme, J., Motzo, C., Cucca, F., Hess, J. F., Metzker, M. L., Rogers, J., Gregory, S., Allahabadia, A., Nithiyananthan, R., Tuomilehto-Wolf, E., Tuomilehto, J., Bingley, P., Gillespie, K. M., Undlien, D. E., Rønningen, K. S., Guja, C., Ionescu-Tîrgovişte, C., Savage, D. A., Maxwell, A. P., Carson, D. J., Patterson, C. C., Franklyn, J. A., Clayton, D. G., Peterson, L. B., Wicker, L. S., Todd, J. A., & Gough, S. C. L.
- Affiliations
- University of Cambridge (GB)
- University of Birmingham (GB)
- University of Cagliari (IT)
- Merck & Co., Inc., Rahway, NJ, USA (United States) (US)
- Wellcome Sanger Institute (GB)
- University of Helsinki (FI)
- University of Bristol (GB)
- University of Oslo (NO)
- Norwegian Institute of Public Health (NO)
- Queen's University Belfast (GB)
- Belfast City Hospital (GB)
- Corresponding author
- Wicker, Linda S.
- Todd, John A.
- ORCID
- Ueda, Hironori
- Howson, Joanna M. M.
- Esposito, Laura
- Rainbow, Daniel B.
- Dahlman, Ingrid
- Payne, Felicity
- Smyth, Deborah
- Lowe, Christopher
- Cordell, Heather J.
- Walker, Neil M.
- Cucca, Francesco
- Gregory, Simon
- Allahabadia, Amit
- Tuomilehto, Jaakko
- Gillespie, Kathleen M.
- Rønningen, Kjersti S.
- Guja, Cristian
- Savage, David A.
- Maxwell, A. Peter
- Patterson, Chris C.
- Clayton, David G.
- Wicker, Linda S.
- Todd, John A.
- Venue
- Nature
- Published
- 2003-04-30
- Volume
- 423
- Issue
- 6939
- Pages
- 506-511
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W1519521580
- Cited by
- 2,175
- References
- 47
- Citations by year
- 2026: 15 · 2025: 22 · 2024: 39 · 2023: 38 · 2022: 39 · 2021: 50 · 2020: 43 · 2019: 67 · 2018: 79 · 2017: 58 · 2016: 60 · 2015: 79 · 2014: 79 · 2013: 110 · 2012: 105
- FWCI
- 99.37
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- ePrints Soton (University of Southampton) (submittedVersion)
- UNICA IRIS Institutional Research Information System (University of Cagliari) (submittedVersion)
- UnissResearch (Università degli Studi di Sassari) (submittedVersion)
- University of Birmingham Research Portal (University of Birmingham) (submittedVersion)
- Funders
- Wellcome Trust
- Diabetes UK
- Academy of Finland
- Novo Nordisk
- Medical Research Council
- National Institute of Allergy and Infectious Diseases
- 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
- CTLA-4, cytotoxic T lymphocyte antigen 4, autoimmune disease susceptibility, genetic polymorphism, Graves' disease, autoimmune hypothyroidism, type 1 diabetes, alternative splicing, immune regulation, risk genes
- MeSH terms
- Abatacept, Animals, Antigens, Differentiation, Autoimmune Diseases, Base Sequence, Diabetes Mellitus, Type 1, Disease Models, Animal, Genotype, Graves Disease, Humans, Hypothyroidism, T-Lymphocytes, Antigens, CD, Alternative Splicing, Immunoconjugates, Genetic Predisposition to Disease, Protein Isoforms, Polymorphism, Single Nucleotide, Mice, CTLA-4 Antigen
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