IL-2 and its high-affinity receptor: genetic control of immunoregulation and autoimmunity

Semin Immunol. 2009 Dec;21(6):363-71. doi: 10.1016/j.smim.2009.04.004. Epub 2009 May 15.

Abstract

Type 1 diabetes (T1D) is an organ-specific autoimmune disease featured by destruction of the insulin producing beta-cells of the pancreas by autoreactive T-lymphocytes. Putative environmental triggers conspire with a constellation of genetic elements scattered throughout the genome to elicit a multifactorial autoimmune response involving virtually every cell type of the immune system against pancreatic beta-cells. Recent highly powered genome-wide association studies have confirmed and identified fifteen chromosomal regions harboring several candidate T1D-associated gene loci. Here, we summarize what we know about the genetics of T1D with an emphasis on the contributions of mouse Il2 and human IL2RA polymorphisms and the IL-2-IL-2R pathway to autoimmunity and, more specifically, Treg development and function.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Diabetes Mellitus, Type 1 / genetics*
  • Diabetes Mellitus, Type 1 / immunology*
  • Genome-Wide Association Study
  • Humans
  • Immune System Diseases / genetics
  • Immune System Diseases / immunology
  • Interleukin-2 / genetics*
  • Interleukin-2 / immunology*
  • Interleukin-2 Receptor alpha Subunit / genetics*
  • Interleukin-2 Receptor alpha Subunit / immunology*
  • Mice
  • Polymorphism, Genetic*

Substances

  • Interleukin-2
  • Interleukin-2 Receptor alpha Subunit