title: Functional consequences of mutations in the autophagy genes in the pathogenesis of Crohn's disease.
abstract: Genome-wide association studies have highlighted a number of genes involved in autophagy, which are of potential importance in the pathogenesis of Crohn's disease (CD). The associated polymorphisms in ATG16L1 and IRGM have been confirmed, and functional studies have begun to shed light on how they link to CD pathogenesis. In this review we consider the most salient aspects of this rapidly expanding field.
authors.affiliation: TGU, John Radcliffe Hospital, Oxford, UK.
authors.forename: Oliver
authors.initials: O
authors.lastname: Brain
authors.forename: Rachel
authors.initials: R
authors.lastname: Cooney
authors.forename: Alison
authors.initials: A
authors.lastname: Simmons
authors.forename: Derek
authors.initials: D
authors.lastname: Jewell
mesh_terms: D001343:Autophagy / Q000235:genetics*; D000071183:Autophagy-Related Proteins; D002352:Carrier Proteins / Q000235:genetics; D003424:Crohn Disease / Q000235:genetics*; D005260:Female; D019204:GTP-Binding Proteins / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide
chemical_list: C518959:ATG16L1 protein, human; D000071183:Autophagy-Related Proteins; D002352:Carrier Proteins; D019204:GTP-Binding Proteins; C513539:IRGM protein, human