Genetic association between a lymphoid tyrosine phosphatase (PTPN22) and type 1 diabetes

Weipeng Zheng, Jin Xiong She

Research output: Contribution to journalArticle

110 Citations (Scopus)

Abstract

The lymphoid-specific phosphatase (LYP) encoded by PTPN22 is involved in preventing spontaneous T-cell activation by dephosphorylating and inactivating T-cell receptor-associated Csk kinase. We have genotyped 396 type 1 diabetic patients and 1,178 control subjects of Caucasian descent from north central Florida and report a strong association between type 1 diabetes and a polymorphism (R620W) in the PTPN22 gene. The homozygous genotype for the T allele encoding the 620W residue is associated with an increased risk for developing type 1 diabetes (odds ratio [OR] = 3.4, P < 0.008), and the heterozygous genotype C/T had an OR of 1.7 (P = 6 × 10-6). The C/C homosygous genotype is protective against type 1 diabetes (OR = 0.5, P = 6 × 10-6). Furthermore, transmission disequilibrium analysis of 410 affected sibpair and simplex families of Caucasian, descent indicated that the type 1 diabetes-associated T allele is transmitted more often (57.2%) than randomly expected (P < 0.003). Together with previous reports of the association between PTPN22 and type 1 diabetes, as well as rheumatoid arthritis and systemic lupus erythematosus, these results provide compelling evidence that LYP is a critical player in multiple autoimmune disorders.

Original languageEnglish (US)
Pages (from-to)906-908
Number of pages3
JournalDiabetes
Volume54
Issue number3
DOIs
StatePublished - Mar 1 2005

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Non-Receptor Type 22 Protein Tyrosine Phosphatase
Type 1 Diabetes Mellitus
Tyrosine
Odds Ratio
Genotype
Alleles
T-Cell Antigen Receptor
Systemic Lupus Erythematosus
Rheumatoid Arthritis
Phosphotransferases
T-Lymphocytes
Genes

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism

Cite this

Genetic association between a lymphoid tyrosine phosphatase (PTPN22) and type 1 diabetes. / Zheng, Weipeng; She, Jin Xiong.

In: Diabetes, Vol. 54, No. 3, 01.03.2005, p. 906-908.

Research output: Contribution to journalArticle

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