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PMID: 16273109 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant.

Nature genetics ·Vol. 37 ·No. 12 ·2005-12-00 ·Pages 1317-9

Vang T, Congia M, Macis MD, Musumeci L, Orrú V, Zavattari P, Nika K, Tautz L, Taskén K, Cucca F, Mustelin T, Bottini N

Abstract

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.

MeSH Terms

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

Chemicals

Antibodies Interleukin-2 Receptors, Antigen, T-Cell PTPN22 protein, human Protein Tyrosine Phosphatase, Non-Receptor Type 1 Protein Tyrosine Phosphatase, Non-Receptor Type 22 Protein Tyrosine Phosphatases

Authors & Affiliations

12 authors, click to expand affiliations / ORCID

Vang Torkel

Program on Inflammatory Disease Research, Infectious and Inflammatory Disease Center, The Burnham Institute, 10901 North Torrey Pines Road, La Jolla, California 92037, USA.

Congia Mauro

Macis Maria Doloretta

Musumeci Lucia

Orrú Valeria

Zavattari Patrizia

Nika Konstantina

Tautz Lutz

Taskén Kjetil

Cucca Francesco

Mustelin Tomas

Bottini Nunzio

Article Info

Journal

Nature genetics

Abbr.

Nat Genet

ISSN

1061-4036

DOI

10.1038/ng1673

Published

2005-12-00

Epub

2005-00-06

Pages

1317-9

Language

English

Region

United States

NLM ID

9216904

Subset

Grants

Telethon · GJT030477 · Italy

Corrections

CommentIn

PMID: 16314859

External Links

PubMed source DOI: 10.1038/ng1673 View journal details

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