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.

A functional variant of lymphoid tyrosine phosphatase is associated with type 1 diabetes / Bottini, N; Musumeci, L; Alonso, A; Rahmouni, S; Nika, K; Rostamkhani, M; Macmurray, J; Meloni, Gianfranco; Lucarelli, P; Pellecchia, M; Eisenbarth, Gs; Comings, D; Mustelin, T.. - In: NATURE GENETICS. - ISSN 1061-4036. - 36:4(2004), pp. 337-338. [10.1038/ng1323]

A functional variant of lymphoid tyrosine phosphatase is associated with type 1 diabetes

MELONI, Gianfranco;
2004-01-01

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.
2004
A functional variant of lymphoid tyrosine phosphatase is associated with type 1 diabetes / Bottini, N; Musumeci, L; Alonso, A; Rahmouni, S; Nika, K; Rostamkhani, M; Macmurray, J; Meloni, Gianfranco; Lucarelli, P; Pellecchia, M; Eisenbarth, Gs; Comings, D; Mustelin, T.. - In: NATURE GENETICS. - ISSN 1061-4036. - 36:4(2004), pp. 337-338. [10.1038/ng1323]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11388/44955
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