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

被引：1071

作者：

Bottini, N

Musumeci, L

Alonso, A

Rahmouni, S

Nika, K

Rostamkhani, M

MacMurray, J

Meloni, GF

Lucarelli, P

Pellecchia, M

Eisenbarth, GS

Comings, D

Mustelin, T

机构：

[1] Burnham Inst, Canc Res Ctr, Program Signal Transduct, La Jolla, CA 92037 USA

[2] City Hope Natl Med Ctr, Dept Med Genet, Duarte, CA 91010 USA

[3] Univ Sassari, Dept Pediat, I-07100 Sassari, Italy

[4] Italian Natl Res Council, Rome, Italy

[5] Univ Colorado, Hlth Sci Ctr, Barbara Davis Ctr Childhood Diabet, Denver, CO 80262 USA

来源：

NATURE GENETICS | 2004年 / 36卷 / 04期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1038/ng1323

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

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收藏

页码：337 / 338

页数：2

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