The PTPN22gain-of-function+1858T(+) genotypes correlate with low IL-2 expression in thymomas and predispose to myasthenia gravis

Genes Immun. 2009 Dec;10(8):667-72. doi: 10.1038/gene.2009.64. Epub 2009 Aug 20.

Abstract

Protein tyrosine phosphatase, non-receptor type 22 (PTPN22) inhibits T-cell activation and interleukin-2 (IL-2) production. The PTPN22(gain-of-function)+1858T(+) genotypes predispose to multiple autoimmune diseases, including early-onset (non-thymomatous) myasthenia gravis (MG). The disease association and the requirement of IL-2/IL-2 receptor signaling for intrathymic, negative T-cell selection have suggested that these genotypes may weaken T-cell receptor (TCR) signaling and impair the deletion of autoreactive T cells. Evidence for this hypothesis is missing. Thymoma-associated MG, which depends on intratumorous generation and export of mature autoreactive CD4(+) T cells, is a model of autoimmunity because of central tolerance failure. Here, we analyzed the PTPN22 +1858C/T single nucleotide polymorphism in 426 German Caucasian individuals, including 125 thymoma patients (79 with MG), and investigated intratumorous IL-2 expression levels. Unlike two previous studies on French and Swedish patients, we found strong association of PTPN22 +1858T(+) genotypes not only with early-onset MG (P=0.00034) but also with thymoma-associated MG (P=0.0028). IL-2 expression in thymomas with PTPN22 +1858T(+) genotypes (P=0.028) was lower, implying weaker TCR signaling. We conclude that the PTPN22(gain-of-function) variant biases towards MG in a subgroup of thymoma patients possibly by impeding central tolerance induction.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Antigens, CD / genetics
  • Antigens, CD / immunology
  • CTLA-4 Antigen
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Interleukin-2 / immunology*
  • Male
  • Middle Aged
  • Myasthenia Gravis / complications
  • Myasthenia Gravis / genetics
  • Myasthenia Gravis / immunology*
  • Polymorphism, Single Nucleotide*
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22 / genetics*
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22 / immunology*
  • Thymoma / complications
  • Thymoma / genetics
  • Thymoma / immunology*
  • Thymus Neoplasms / complications
  • Thymus Neoplasms / genetics
  • Thymus Neoplasms / immunology*
  • White People / genetics
  • Young Adult

Substances

  • Antigens, CD
  • CTLA-4 Antigen
  • CTLA4 protein, human
  • Interleukin-2
  • PTPN22 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22