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

N Bottini, L Musumeci, A Alonso, S Rahmouni, K Nika… - Nature …, 2004 - nature.com
N Bottini, L Musumeci, A Alonso, S Rahmouni, K Nika, M Rostamkhani, J MacMurray…
Nature genetics, 2004nature.com
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.
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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