Protein tyrosine phosphatase PTPN22 in human autoimmunity

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.

• Protein tyrosine phosphatase
• human autoimmunity
• Graves' disease
• rheumatoid arthritis
• type 1 diabetes

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).