title: Progress in understanding type 1 diabetes through its genetic overlap with other autoimmune diseases.
abstract: Type 1 diabetes mellitus (T1DM) is the most common autoimmune disease in pediatrics with a prevalence of roughly 1 in 500 children in the USA. Genome-wide association studies have identified more than 50 variants associated with increased risk for type 1 diabetes. Comparison of these variants with those identified in other autoimmune diseases reveals three important findings: (1) there is a high degree of overlap in implicated variants in diseases with similar pathophysiology, (2) in diseases with differing pathophysiology the same variants are often implicated in opposite roles, (3) in diseases with differing pathophysiology that have many non-overlapping or oppositely implicated variants there are still several variants which are overlapping or shared. Thus, the genetic overlap between T1DM and other autoimmune diseases forms the basis for our understanding of druggable targets in type 1 diabetes.
authors.affiliation: Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, 34th and Civic Center Blvd. 11NW, Philadelphia, PA, 19103, USA. roizenj@chop.edu.|Division of Pulmonary Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. roizenj@chop.edu.
authors.forename: Jeffrey D
authors.initials: JD
authors.lastname: Roizen
authors.affiliation: The Center for Applied Genomics, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd., Suite 1014H, Philadelphia, PA, 19104, USA. bradfield@email.chop.edu.
authors.forename: Jonathan P
authors.initials: JP
authors.lastname: Bradfield
authors.affiliation: The Center for Applied Genomics, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd., Suite 1014H, Philadelphia, PA, 19104, USA. hakonarson@email.chop.edu.|Division of Pulmonary Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. hakonarson@email.chop.edu.|Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. hakonarson@email.chop.edu.
authors.forename: Hakon
authors.initials: H
authors.lastname: Hakonarson
mesh_terms: D000818:Animals; D001327:Autoimmune Diseases / Q000235:genetics*; D015551:Autoimmunity; D003922:Diabetes Mellitus, Type 1 / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology; D055106:Genome-Wide Association Study; D023281:Genomics; D006801:Humans
keywords: Autoimmunity; ENCODE; GWAS; Genomic; Type 1 diabetes mellitus