Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant

被引：541

作者：

Vang, T

Congia, M

Macis, MD

Musumeci, L

Orrú, V

Zavattari, P

Nika, K

Tautz, L

Taskén, K

Cucca, F

Mustelin, T

Bottini, N

机构：

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

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

[3] Univ Cagliari, Osped Microcitemico, Dipartimento Sci Biomed & Biotecnol, I-09121 Cagliari, Italy

[4] Univ So Calif, Keck Sch Med, Dept Orthopaed Surg, Los Angeles, CA 90033 USA

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

[6] Univ Oslo, Ctr Biotechnol, N-0317 Oslo, Norway

来源：

NATURE GENETICS | 2005年 / 37卷 / 12期

关键词：

D O I：

10.1038/ng1673

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A SNP in the gene PTPN22 is associated with type 1 diabetes, rheumatoid arthritis, lupus, Graves thyroiditis, Addison disease and other autoimmune disorders. T cells from carriers of the predisposing allele produce less interleukin-2 upon TCR stimulation, and the encoded phosphatase has higher catalytic activity and is a more potent negative regulator of T lymphocyte activation. We conclude that the autoimmune-predisposing allele is a gain-of-function mutant.

引用

页码：1317 / 1319

页数：3

共 16 条

[1] A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis [J].