title: Autophagy and Crohn's disease.
abstract: Advances in genetics have shed light on the molecular basis of Crohn's disease (CD) predisposition and pathogenesis, via linkage disequilibrium analysis to genome-wide association studies. The discovery of genetic variants of NOD2, an intracellular pathogen molecular sensor, as risk factors for CD has paved the way for further research on innate immunity in this disease. Remarkably, polymorphisms in autophagy genes, such as ATG16L1 and IRGM, have been identified, allowing the pivotal role of autophagy in innate immunity to be uncovered. In this review, we summarize recent studies on the CD-associated NOD2, ATG16L1 and IRGM risk variants and their contribution to the autophagy functions that have most influenced our understanding of CD pathophysiology.
authors: UMR 1071 Inserm/Université d'Auvergne, Paris, France.
authors: Hang Thi Thu
authors: HT
authors: Nguyen
authors: Pierre
authors: P
authors: Lapaquette
authors: Marie-Agnès
authors: MA
authors: Bringer
authors: Arlette
authors: A
authors: Darfeuille-Michaud
mesh_terms: D000818:Animals; D001343:Autophagy / Q000235:genetics / Q000276:immunology*; D000071183:Autophagy-Related Proteins; D002352:Carrier Proteins / Q000235:genetics / Q000378:metabolism*; D003424:Crohn Disease / Q000235:genetics / Q000276:immunology*; D019204:GTP-Binding Proteins / Q000235:genetics / Q000378:metabolism*; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D007113:Immunity, Innate; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics / Q000378:metabolism*; D011110:Polymorphism, Genetic
chemical_list: C518959:ATG16L1 protein, human; D000071183:Autophagy-Related Proteins; D002352:Carrier Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein; D019204:GTP-Binding Proteins; C513539:IRGM protein, human