title: Common alleles that influence autophagy and the risk for inflammatory bowel disease.
abstract: Genetic studies of inflammatory bowel disease (IBD) have identified multiple risk loci that contain genes involved in autophagy. Although autophagy was traditionally considered to be a homeostatic response to ensure the recycling of cellular materials, it has now been additionally established to have roles in immunity and inflammation. In this review, we highlight how genetics have begun to identify a broader role for autophagy as a key pathway in Crohn's disease (CD). We review recent studies that have implicated autophagy in the regulation of mucosal homeostasis, including roles in intracellular defense, vesicular trafficking, and inflammatory signaling. Finally, we discuss studies that have begun to demonstrate how CD risk polymorphisms cause defects in autophagy and promote a breakdown of intestinal homeostasis.
authors.affiliation: Gastrointestinal Unit, Center for the Study of Inflammatory Bowel Disease, and Center for Computational and Integrative Biology, Massachusetts General Hospital, Boston, MA, USA. agardet@partners.org
authors.forename: Agnès
authors.initials: A
authors.lastname: Gardet
authors.forename: Ramnik J
authors.initials: RJ
authors.lastname: Xavier
mesh_terms: D000818:Animals; D001343:Autophagy / Q000235:genetics* / Q000276:immunology*; D003424:Crohn Disease / Q000209:etiology / Q000235:genetics / Q000276:immunology; D005787:Gene Frequency / Q000235:genetics* / Q000276:immunology*; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000209:etiology / Q000235:genetics* / Q000276:immunology*; D012307:Risk Factors