CARD15/NOD2 mutations in Crohn's disease.
INSERM Avenir U458, Hôpital Robert Debré, 48 Boulevard Sérurier, 75019 Paris, France. jean-pierre.hugot@rdb.aphp.fr
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.
PMID: 17057186 [PubMed - indexed for MEDLINE]