title: Towards a molecular risk map--recent advances on the etiology of inflammatory bowel disease.
abstract: Recent advances have enabled a comprehensive understanding of the genetic architecture of inflammatory bowel disease (IBD) with over 30 identified and replicated disease loci. The pathophysiological consequences of disease gene variants in Crohn disease and ulcerative colitis, the two main subentities of IBD, so far are only understood on the single disease gene level, yet complex network analyses linking the individual risk factors into a molecular risk map are still missing. In this review, we will focus on recent pathways and cellular functions that emerged from the genetic studies (e.g. innate immunity, autophagy) and delineate the existence of shared (e.g. IL23R, IL12B) and unique (e.g. NOD2 for CD) risk factors for the disease subtypes. Ultimately, the defined molecular profiles may identify individuals at risk early in life and may serve as a guidance to administer personalized interventions for causative therapies and/or early targeted prevention strategies. Due to this comparatively advanced level of molecular understanding in the field, IBD may represent precedent also for future developments of individualized genetic medicine in other polygenic disorders in general.
authors.affiliation: Institute for Clinical Molecular Biology, Christian-Albrechts University of Kiel, Schittenhelmstr. 12, D-24105 Kiel, Germany. p.rosenstiel@mucosa.de
authors.forename: Philip
authors.initials: P
authors.lastname: Rosenstiel
authors.forename: Christian
authors.initials: C
authors.lastname: Sina
authors.forename: Andre
authors.initials: A
authors.lastname: Franke
authors.forename: Stefan
authors.initials: S
authors.lastname: Schreiber
mesh_terms: D000818:Animals; D003093:Colitis, Ulcerative / Q000235:genetics* / Q000276:immunology; D003424:Crohn Disease / Q000235:genetics* / Q000276:immunology; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D007422:Intestines / Q000276:immunology; D018433:Twin Studies as Topic