Unraveling the functional implications of GWAS: how T cell protein tyrosine phosphatase drives autoimmune disease

J Clin Invest. 2011 Dec;121(12):4618-21. doi: 10.1172/JCI60001. Epub 2011 Nov 14.

Abstract

Genome-wide association studies (GWAS) have identified a large number of SNPs that are linked to human autoimmune diseases. However, the functional consequences of most of these genetic variations remain undefined. T cell protein tyrosine phosphatase (TCPTP, which is encoded by PTPN2) is a JAK/STAT and growth factor receptor phosphatase that has been linked to the pathogenesis of type 1 diabetes, rheumatoid arthritis, and Crohn's disease by GWAS. In this issue of the JCI, Wiede and colleagues have generated a T cell-specific deletion of TCPTP and identified a novel role for this phosphatase as a negative regulator of TCR signaling. These data provide new insight as to how noncoding PTPN2 SNPs identified in GWAS could drive human autoimmune diseases.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Comment

MeSH terms

  • Animals
  • Autoimmune Diseases / etiology*
  • Immune Tolerance / immunology*
  • Protein Tyrosine Phosphatase, Non-Receptor Type 2 / physiology*
  • Receptors, Antigen, T-Cell / immunology*
  • T-Lymphocyte Subsets / enzymology*

Substances

  • Receptors, Antigen, T-Cell
  • Protein Tyrosine Phosphatase, Non-Receptor Type 2
  • Ptpn2 protein, mouse