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Autoimmunity Volume 40, 2007 - Issue 6
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Original

Protein tyrosine phosphatase PTPN22 in human autoimmunity

Torkel Vang The Burnham Institute for Medical Research, La Jolla, CA92037, USA
,
Ana V. Miletic The Burnham Institute for Medical Research, La Jolla, CA92037, USA
,
Nunzio Bottini Institute for Genetic Medicine, University of Southern California Keck School of Medicine, Los Angeles, CA90033, USA
&
Tomas Mustelin Amgen Inc., 1201 Amgen Court West, Seattle, WA98119, USA
Pages 453-461 | Received 15 Feb 2007, Accepted 15 Feb 2007, Published online: 07 Jul 2009
 
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Abstract

The discovery that a single-nucleotide polymorphism (SNP) in lymphoid tyrosine phosphatase (LYP), encoded by the PTPN22 gene, is associated with type 1 diabetes (T1D) has now been verified by numerous studies and has been expanded to rheumatoid arthritis, juvenile rheumatoid arthritis (JRA), systemic lupus erythematosus, Graves' disease, generalized vitiligo and other human autoimmune diseases. In this paper, we discuss the association of PTPN22 with autoimmunity, the biochemistry of the PTPN22-encoded phosphatase, and the molecular mechanism(s) by which the disease-predisposing allele contributes to the development of human disease.

Acknowledgements

This work was supported by a fellowship from the Norwegian Cancer Society (to T.V.) and by grants from the Juvenile Diabetes Research Foundation (1-2005-342 to N.B.), and the US National Institutes of Health (AI53585 to T.M).

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