title: Genetics of inflammatory bowel disease: beyond NOD2.
abstract: The study of the genetic underpinnings of inflammatory bowel disease has made great progress since the identification of NOD2 as a major susceptibility gene. Novel genotyping and sequencing technologies have led to the discovery of 242 common susceptibility loci, 45 of which have been fine-mapped to statistically conclusive causal variants; 50 genes associated with very-early-onset inflammatory disease have been identified. The evolving genetic architecture of inflammatory bowel disease has deepened our understanding of its pathogenesis through identification of major disease associated pathways-knowledge that has the potential to indicate novel drug targets or markers for personalised medicine. However, many causal variants have yet to be identified, and a large proportion of missing heritability still needs to be accounted for. In addition, the medical and scientific communities are probably not yet fully harnessing the power of these genetic discoveries.
authors.affiliation: Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, UK.
authors.forename: Maša Umićević
authors.initials: MU
authors.lastname: Mirkov
authors.affiliation: Department of Medicine and Cambridge Institute for Medical Research, University of Cambridge, School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK; Translational Research in Gastrointestinal Disorders (TARGID), Department of Clinical and Experimental Medicine, KU Leuven, Leuven, Belgium.
authors.forename: Bram
authors.initials: B
authors.lastname: Verstockt
authors.affiliation: Department of Human Genetics, KU Leuven, Leuven, Belgium. Electronic address: isabelle.cleynen@kuleuven.be.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Cleynen
mesh_terms: D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D060005:Genotyping Techniques; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000175:diagnosis / Q000235:genetics*; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D017422:Sequence Analysis, DNA; D057170:Translational Research, Biomedical
chemical_list: D053473:Nod2 Signaling Adaptor Protein