Why is PTPN22 a good candidate susceptibility gene for autoimmune disease?

FEBS Lett. 2011 Dec 1;585(23):3689-98. doi: 10.1016/j.febslet.2011.04.032. Epub 2011 Apr 20.

Abstract

The PTPN22 locus is one of the strongest risk factors outside of the major histocompatability complex that associates with autoimmune diseases. PTPN22 encodes lymphoid protein tyrosine phosphatase (Lyp) which is expressed exclusively in immune cells. A single base change in the coding region of this gene resulting in an arginine to tryptophan amino acid substitution within a polyproline binding motif associates with type 1 diabetes, rheumatoid arthritis, systemic lupus erythematosis, Hashimotos thyroiditis, Graves disease, Addison's disease, Myasthenia Gravis, vitiligo, systemic sclerosis juvenile idiopathic arthritis and psoriatic arthritis. Here, we review the current understanding of the PTPN22 locus from a genetic, geographical, biochemical and functional perspective.

Publication types

  • Review

MeSH terms

  • Animals
  • Autoimmune Diseases / enzymology*
  • Autoimmune Diseases / genetics*
  • Autoimmunity / genetics
  • European Continental Ancestry Group / genetics
  • Genetic Predisposition to Disease*
  • Humans
  • Mutant Proteins / metabolism
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22 / genetics*
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22 / metabolism

Substances

  • Mutant Proteins
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22