title: IL-2 and its high-affinity receptor: genetic control of immunoregulation and autoimmunity.
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.
authors.affiliation: Julia McFarlane Diabetes Research Centre (JMDRC) and Department of Microbiology and Infectious Diseases, Institute of Inflammation, Infection and Immunity, Faculty of Medicine, The University of Calgary, Calgary, Alberta, Canada T2N 4N1.
authors.forename: Jinguo
authors.initials: J
authors.lastname: Wang
authors.forename: Linda S
authors.initials: LS
authors.lastname: Wicker
authors.forename: Pere
authors.initials: P
authors.lastname: Santamaria
mesh_terms: D000818:Animals; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics* / Q000276:immunology*; D055106:Genome-Wide Association Study; D006801:Humans; D007154:Immune System Diseases / Q000235:genetics / Q000276:immunology; D007376:Interleukin-2 / Q000235:genetics* / Q000276:immunology*; D053645:Interleukin-2 Receptor alpha Subunit / Q000235:genetics* / Q000276:immunology*; D051379:Mice; D011110:Polymorphism, Genetic
chemical_list: D007376:Interleukin-2; D053645:Interleukin-2 Receptor alpha Subunit