Role of PTPN22 in type 1 diabetes and other autoimmune diseases

被引：274

作者：

Bottini, Nunzio

Vang, Torkel

Cucca, Francesco

Mustelin, Tomas

机构：

[1] Burnham Inst Med Res, Infect & Inflammatory Dis Ctr, Program Inflammatory Dis Res, La Jolla, CA 92037 USA

[2] Univ So Calif, Keck Sch Med, Inst Med Genet, Los Angeles, CA 90033 USA

[3] Burnham Inst Med Res, Program Signal Transduct Res, Ctr Canc, La Jolla, CA 92037 USA

[4] Univ Cagliari, Dipartimento Sci Biomed & Biotecnol, I-09121 Cagliari, Italy

[5] Univ Sassari, Dipartimento Sci Biomed, Cattedra Genet Med, I-07100 Sassari, Italy

来源：

SEMINARS IN IMMUNOLOGY | 2006年 / 18卷 / 04期

关键词：

diabetes; TID; PTPN22; LYP; SNP; autoimmunity;

D O I：

10.1016/j.smim.2006.03.008

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

We recently discovered that a single-nucleotide polymorphism (SNP) in the lymphoid tyrosine phosphatase (LYP), encoded by the PTPN22 gene on chromosome lp13, 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. (C) 2006 Elsevier Ltd. All rights reserved.

引用

页码：207 / 213

页数：7

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