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蛋白酪氨酸磷酸酶非受体型22（PTPN22）：其在系统性红斑狼疮和自身免疫中的作用

PTPN22: its role in SLE and autoimmunity.

作者信息

Chung Sharon A, Criswell Lindsey A

机构信息

Rosalind Russell Medical Research Center for Arthritis, Department of Medicine, University of California, San Francisco, CA, USA.

出版信息

Autoimmunity. 2007 Dec;40(8):582-90. doi: 10.1080/08916930701510848.

DOI:10.1080/08916930701510848
PMID:18075792
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2875134/
Abstract

A functional variant of protein tyrosine phosphatase nonreceptor 22 (PTPN22) has recently been shown to be associated with multiple autoimmune diseases, including systemic lupus erythematosus (SLE), rheumatoid arthritis, type 1 diabetes, and autoimmune thyroid disease. In this review, we discuss the structure and function of this gene and its disease-associated polymorphisms. In addition, we review the studies investigating the association between this gene and SLE, along with other autoimmune diseases.

摘要

蛋白酪氨酸磷酸酶非受体22（PTPN22）的一个功能性变体最近被证明与多种自身免疫性疾病相关，包括系统性红斑狼疮（SLE）、类风湿性关节炎、1型糖尿病和自身免疫性甲状腺疾病。在这篇综述中，我们讨论了该基因的结构和功能及其与疾病相关的多态性。此外，我们还综述了研究该基因与SLE以及其他自身免疫性疾病之间关联的研究。

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本文引用的文献

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Linkage proof for PTPN22, a rheumatoid arthritis susceptibility gene and a human autoimmunity gene.类风湿关节炎易感基因及人类自身免疫基因PTPN22的连锁验证
Proc Natl Acad Sci U S A. 2007 Jan 30;104(5):1649-54. doi: 10.1073/pnas.0610250104. Epub 2007 Jan 19.
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Investigation of genetic variation across the protein tyrosine phosphatase gene in patients with rheumatoid arthritis in the UK.英国类风湿性关节炎患者蛋白质酪氨酸磷酸酶基因的遗传变异研究。
Ann Rheum Dis. 2007 May;66(5):683-6. doi: 10.1136/ard.2006.060459. Epub 2006 Dec 14.
3
Association of PTPN22 haplotypes with Graves' disease.蛋白酪氨酸磷酸酶非受体型22（PTPN22）单倍型与格雷夫斯病的关联
J Clin Endocrinol Metab. 2007 Feb;92(2):685-90. doi: 10.1210/jc.2006-2064. Epub 2006 Dec 5.
4
Multiplex family-based study in systemic lupus erythematosus: association between the R620W polymorphism of PTPN22 and the FcgammaRIIa (CD32A) R131 allele.系统性红斑狼疮的基于家系的多基因研究：蛋白酪氨酸磷酸酶非受体型22（PTPN22）的R620W多态性与Fcγ受体IIa（CD32A）R131等位基因之间的关联
Tissue Antigens. 2006 Nov;68(5):432-8. doi: 10.1111/j.1399-0039.2006.00695.x.
5
Association analysis of the PTPN22 gene in childhood-onset systemic lupus erythematosus in Mexican population.墨西哥人群儿童期起病系统性红斑狼疮中PTPN22基因的关联分析
Genes Immun. 2006 Dec;7(8):693-5. doi: 10.1038/sj.gene.6364350. Epub 2006 Oct 26.
6
A haplotype-based analysis of the PTPN22 locus in type 1 diabetes.基于单倍型的1型糖尿病患者PTPN22基因座分析。
Diabetes. 2006 Oct;55(10):2883-9. doi: 10.2337/db06-0225.
7
No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations.在两个白种人群体中，-1123 G>C和+2740 A>G变异在蛋白酪氨酸磷酸酶非受体型22（PTPN22）与1型糖尿病及青少年特发性关节炎的关联中无独立作用。
Diabetes Res Clin Pract. 2007 May;76(2):297-303. doi: 10.1016/j.diabres.2006.09.009. Epub 2006 Sep 26.
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Lack of association of the PTPN22 gene polymorphism R620W with systemic sclerosis.蛋白酪氨酸磷酸酶非受体型22基因（PTPN22）多态性R620W与系统性硬化症无关联。
Clin Exp Rheumatol. 2006 May-Jun;24(3):321-4.
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Evaluation of the genetic association of the PTPN22 R620W polymorphism in familial and sporadic systemic lupus erythematosus.PTPN22基因R620W多态性在家族性和散发性系统性红斑狼疮中的遗传关联性评估。
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The PTPN22 C1858T functional polymorphism and autoimmune diseases--a meta-analysis.蛋白酪氨酸磷酸酶非受体型22基因（PTPN22）C1858T功能多态性与自身免疫性疾病——一项荟萃分析
Rheumatology (Oxford). 2007 Jan;46(1):49-56. doi: 10.1093/rheumatology/kel170. Epub 2006 Jun 7.