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Role of PTPN22 in type 1 diabetes and other autoimmune diseases

Bottini, Nunzio and Vang, Torkel and Cucca, Francesco and Mustelin, Tomas (2006) Role of PTPN22 in type 1 diabetes and other autoimmune diseases. Seminars in Immunology, Vol. 18 (4), p. 207-213. ISSN 1044-5323. Article.

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DOI: 10.1016/j.smim.2006.03.008


We recently discovered that a single-nucleotide polymorphism (SNP) in the lymphoid tyrosine phosphatase (LYP), encoded by the PTPN22 gene on chromosome 1p13, correlates strongly with the incidence of type 1 diabetes (T1D) in two independent populations. This findings has now been verified by numerous studies and it has been expanded to rheumatoid arthritis, juvenile rheumatoid arthritis, systemic lupus erythematosus, Graves' disease, generalized vitiligo and other autoimmune disease. Here we review the genetics of the SNP and its association with autoimmunity, discuss the function of the phosphatase in signaling, the biochemistry of the disease-predisposing allele, and the possible mechanisms by which PTPN22 contributes to the development of human disease.

Item Type:Article
ID Code:4196
Uncontrolled Keywords:Diabetes, TID, PTPN22, LYP, SNP, autoimmunity
Subjects:Area 06 - Scienze mediche > MED/03 Genetica medica
Divisions:001 Università di Sassari > 01 Dipartimenti > Scienze biomediche
Deposited On:16 Jul 2010 12:22

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