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Brief Communication

Nature Genetics 36, 337–338 (1 April 2004) | doi:10.1038/ng1323

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

Nunzio Bottini , 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

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.