Why is PTPN22 a good candidate susceptibility gene for autoimmune disease?

被引：167

作者：

Burn, Garth L. ^{[1
]}

Svensson, Lena ^{[1
]}

Sanchez-Blanco, Cristina ^{[1
]}

Saini, Manoj ^{[1
]}

Cope, Andrew P. ^{[1
]}

机构：

[1] Kings Coll London, Kings Coll Sch Med, Div Immunol Infect & Inflammatory Dis, Ctr Mol & Cellular Biol Inflammat,Acad Dept Rheum, London, England

来源：

FEBS LETTERS | 2011年 / 585卷 / 23期

关键词：

PTPN22; Lyp; Autoimmunity; Phosphatase; Genetics; PROTEIN-TYROSINE-PHOSPHATASE; SINGLE-NUCLEOTIDE POLYMORPHISM; JUVENILE IDIOPATHIC ARTHRITIS; SYSTEMIC-LUPUS-ERYTHEMATOSUS; T-CELL-ACTIVATION; OF-FUNCTION VARIANT; RHEUMATOID-ARTHRITIS; C1858T POLYMORPHISM; R620W POLYMORPHISM; GENERALIZED VITILIGO;

D O I：

10.1016/j.febslet.2011.04.032

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The PTPN22 locus is one of the strongest risk factors outside of the major histocompatability complex that associates with autoimmune diseases. PTPN22 encodes lymphoid protein tyrosine phosphatase (Lyp) which is expressed exclusively in immune cells. A single base change in the coding region of this gene resulting in an arginine to tryptophan amino acid substitution within a polyproline binding motif associates with type 1 diabetes, rheumatoid arthritis, systemic lupus erythematosis, Hashimotos thyroiditis, Graves disease, Addison's disease, Myasthenia Gravis, vitiligo, systemic sclerosis juvenile idiopathic arthritis and psoriatic arthritis. Here, we review the current understanding of the PTPN22 locus from a genetic, geographical, biochemical and functional perspective. Crown Copyright (C) 2011 Published by Elsevier B.V. on behalf of Federation of European Biochemical society. All rights reserved.

引用

页码：3689 / 3698

页数：10

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