人类自身免疫中的蛋白酪氨酸磷酸酶PTPN22

Protein tyrosine phosphatase PTPN22 in human autoimmunity.

作者信息

Vang Torkel, Miletic Ana V, Bottini Nunzio, Mustelin Tomas

机构信息

The Burnham Institute for Medical Research, La Jolla, CA 92037, USA.

出版信息

Autoimmunity. 2007 Sep;40(6):453-61. doi: 10.1080/08916930701464897.

DOI:10.1080/08916930701464897

PMID:17729039

Abstract

The discovery that a single-nucleotide polymorphism (SNP) in lymphoid tyrosine phosphatase (LYP), encoded by the PTPN22 gene, is associated with type 1 diabetes (T1D) has now been verified by numerous studies and has been expanded to rheumatoid arthritis, juvenile rheumatoid arthritis (JRA), systemic lupus erythematosus, Graves' disease, generalized vitiligo and other human autoimmune diseases. In this paper, we discuss the association of PTPN22 with autoimmunity, the biochemistry of the PTPN22-encoded phosphatase, and the molecular mechanism(s) by which the disease-predisposing allele contributes to the development of human disease.

摘要

由PTPN22基因编码的淋巴细胞酪氨酸磷酸酶（LYP）中的单核苷酸多态性（SNP）与1型糖尿病（T1D）相关这一发现，现已得到众多研究的验证，并已扩展至类风湿性关节炎、青少年类风湿性关节炎（JRA）、系统性红斑狼疮、格雷夫斯病、泛发性白癜风及其他人类自身免疫性疾病。在本文中，我们讨论了PTPN22与自身免疫的关联、PTPN22编码的磷酸酶的生物化学，以及疾病易感等位基因促成人类疾病发生发展的分子机制。