淋巴样酪氨酸磷酸酶的一个功能性变体与I型糖尿病相关。

A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes.

作者信息

Bottini Nunzio, Musumeci Lucia, Alonso Andres, Rahmouni Souad, Nika Konstantina, Rostamkhani Masoud, MacMurray James, Meloni Gian Franco, Lucarelli Paola, Pellecchia Maurizio, Eisenbarth George S, Comings David, Mustelin Tomas

机构信息

Program of Signal Transduction, Cancer Research Center, The Burnham Institute, 10901 North Torrey Pines Road, La Jolla, California 92037, USA.

出版信息

Nat Genet. 2004 Apr;36(4):337-8. doi: 10.1038/ng1323. Epub 2004 Mar 7.

DOI:10.1038/ng1323

PMID:15004560

Abstract

We report that a single-nucleotide polymorphism (SNP) in the gene (PTPN22) encoding the lymphoid protein tyrosine phosphatase (LYP), a suppressor of T-cell activation, is associated with type 1 diabetes mellitus (T1D). The variants encoded by the two alleles, 1858C and 1858T, differ in a crucial amino acid residue involved in association of LYP with the negative regulatory kinase Csk. Unlike the variant encoded by the more common allele 1858C, the variant associated with T1D does not bind Csk.

摘要

我们报告，编码淋巴样蛋白酪氨酸磷酸酶（LYP）（一种T细胞活化抑制剂）的基因（PTPN22）中的单核苷酸多态性（SNP）与1型糖尿病（T1D）相关。由两个等位基因1858C和1858T编码的变体在LYP与负调控激酶Csk结合所涉及的关键氨基酸残基上有所不同。与更常见的等位基因1858C编码的变体不同，与T1D相关的变体不结合Csk。