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Article

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

Nature genetics - 1 Apr 2004

Bottini Nunzio, Musumeci Lucia, Alonso Andres, Rahmouni Souad, Nika Konstantina, Rostamkhani Masoud, MacMurray James, Meloni Gian Franco, Lucarelli Paola, Pellecchia Maurizio, Eisenbarth George S, Comings David, Mustelin Tomas

Abstract excerpt

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...

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Share to Diabetes Mellitus, Type 1
Share to PTPN22 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

Share to Protein Tyrosine Phosphatase, Non-Receptor Type 1

Share to Protein Tyrosine Phosphatases

Source

Identifiers

PMID: 15004560
DOI: 10.1038/ng1323

Genes

PTPN22

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes.PMID 15004560Read ↗

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Association of the single nucleotide polymorphism C1858T of the PTPN22 gene with type 1 diabetes.Semantic proximity Read ↗

Role of PTPN22 in type 1 diabetes and other autoimmune diseases.Semantic proximity Read ↗

The putative role of the C1858T polymorphism of protein tyrosine phosphatase PTPN22 gene in autoimmunity.Semantic proximity Read ↗

Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): association between a promoter polymorphism and type 1 diabetes in Asian populations.Semantic proximity Read ↗

The R620W C/T polymorphism of the gene PTPN22 is associated with SLE independently of the association of PDCD1.Semantic proximity Read ↗

C1858T Polymorphism of Protein Tyrosine Phosphatase Non-receptor Type 22 (PTPN22): an eligible target for prevention of type 1 diabetes?Semantic proximity Read ↗

Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locus.Semantic proximity Read ↗

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