CARD15/NOD2 mutations in Crohn's disease.
Inflammatory bowel diseases (IBDs) are complex genetic disorders characterized by a complex interplay between genetic and environmental risk factors. At least ten genes or anonymous loci have been proposed to play a role in IBD. Among them, the best studied is CARD15/NOD2, a gene coding for a protein involved in bacterial recognition by cells involved in innate immunity. Despite a large amount of work, a consensus model explaining the effect of Card 15/NoD2 mutations did not emerge, and the disease mechanisms are still subject to debate.
Hugot
Jean-Pierre
JP
INSERM Avenir U458, Hôpital Robert Debré, 48 Boulevard Sérurier, 75019 Paris, France. jean-pierre.hugot@rdb.aphp.fr
D002874:Chromosome Mapping; D003424:Crohn Disease / Q000235:genetics* / Q000276:immunology; D020022:Genetic Predisposition to Disease; D006801:Humans; D007113:Immunity, Innate; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D009154:Mutation; D053473:Nod2 Signaling Adaptor Protein
D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein