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

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

Nunzio Bottini  1 , Lucia Musumeci, Andres Alonso, Souad Rahmouni, Konstantina Nika, Masoud Rostamkhani, James MacMurray, Gian Franco Meloni, Paola Lucarelli, Maurizio Pellecchia, George S Eisenbarth, David Comings, Tomas Mustelin
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A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes

Nunzio Bottini et al. Nat Genet. 2004 Apr.

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.

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