Alleles; Antibodies/pharmacology; Autoimmune Diseases/enzymology/genetics/immunology; Catalysis; Diabetes Mellitus, Type 1/enzymology/genetics/immunology; Female; Gene Frequency; Genetic Predisposition to Disease; Heterozygote; Humans; Interleukin-2/metabolism; Italy; Lymphocyte Activation; Male; Mutation; Polymorphism, Single Nucleotide; Protein Tyrosine Phosphatase, Non-Receptor Type 1; Protein Tyrosine Phosphatase, Non-Receptor Type 22; Protein Tyrosine Phosphatases/genetics; Receptors, Antigen, T-Cell/drug effects/metabolism; T-Lymphocytes/enzymology/immunology
Abstract :
[en] A SNP in the gene PTPN22 is associated with type 1 diabetes, rheumatoid arthritis, lupus, Graves thyroiditis, Addison disease and other autoimmune disorders. T cells from carriers of the predisposing allele produce less interleukin-2 upon TCR stimulation, and the encoded phosphatase has higher catalytic activity and is a more potent negative regulator of T lymphocyte activation. We conclude that the autoimmune-predisposing allele is a gain-of-function mutant.
Research Center/Unit :
Program on Inflammatory Disease Research, Infectious and Inflammatory Disease Center, The Burnham Institute Dipartimento di Scienze Biomediche e Biotecnologie, Universita` degli Studi di Cagliari Department of Orthopaedic Surgery and Institute for Genetic Medicine, University of Southern California Keck School of Medicine The Biotechnology Centre, University of Oslo
scite shows how a scientific paper has been cited by providing the context of the citation, a classification describing whether it supports, mentions, or contrasts the cited claim, and a label indicating in which section the citation was made.
Bibliography
Mustelin, T., Vang, T. & Bottini, N. Nat. Rev. Immunol. 5, 43-67 (2005).
Tsui, H.W., Siminovitch, K.A., de Souza, L. & Tsui, F.W. Nat. Genet. 4, 124-129 (1993).
Majeti, R. et al. Cell 103, 1059-1069 (2000).
Hasegawa, K. et al. Science 303, 685-689 (2004).
Bottini, N. et al. Nat. Genet. 36, 337-338 (2004).
This website uses cookies to improve user experience. Read more
Save & Close
Accept all
Decline all
Show detailsHide details
Cookie declaration
About cookies
Strictly necessary
Performance
Strictly necessary cookies allow core website functionality such as user login and account management. The website cannot be used properly without strictly necessary cookies.
This cookie is used by Cookie-Script.com service to remember visitor cookie consent preferences. It is necessary for Cookie-Script.com cookie banner to work properly.
Performance cookies are used to see how visitors use the website, eg. analytics cookies. Those cookies cannot be used to directly identify a certain visitor.
Used to store the attribution information, the referrer initially used to visit the website
Cookies are small text files that are placed on your computer by websites that you visit. Websites use cookies to help users navigate efficiently and perform certain functions. Cookies that are required for the website to operate properly are allowed to be set without your permission. All other cookies need to be approved before they can be set in the browser.
You can change your consent to cookie usage at any time on our Privacy Policy page.
