Common alleles that influence autophagy and the risk for inflammatory bowel disease

Curr Opin Immunol. 2012 Oct;24(5):522-9. doi: 10.1016/j.coi.2012.08.001. Epub 2012 Oct 5.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Autophagy / genetics*
  • Autophagy / immunology*
  • Crohn Disease / etiology
  • Crohn Disease / genetics
  • Crohn Disease / immunology
  • Gene Frequency / genetics*
  • Gene Frequency / immunology*
  • Humans
  • Inflammatory Bowel Diseases / etiology
  • Inflammatory Bowel Diseases / genetics*
  • Inflammatory Bowel Diseases / immunology*
  • Risk Factors