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The identification of the role of genetic variants within NOD2 (CARD15) in Crohn's disease and ulcerative colitis susceptibility highlight the role of the innate immune system in inflammatory bowel disease (IBD) pathogenesis. NOD1 (CARD4) is located on chromosome 7p14.3, in a region of known linkage to IBD and encodes an intracellular bacterial pathogen-associated molecular pattern receptor that is closely related to NOD2. We have identified strong association between haplotypes in the terminal exons of NOD1 and IBD (multi-allelic P = 0.0000003) in a panel of 556 IBD trios. The deletion allele of a complex functional NOD1 indel polymorphism (ND(1) + 32656*1) was significantly associated with early-onset IBD (P = 0.0003) in unrelated cases and controls. ND1 + 32656*1 was also associated with extra-intestinal manifestations of IBD (P = 0.04). These findings in two independent populations provide strong evidence for a role for NOD1 variants in IBD susceptibility and reinforce the role of the innate immune system in IBD pathogenesis.

Original publication




Journal article


Hum Mol Genet

Publication Date





1245 - 1250


Adaptor Proteins, Signal Transducing, Adolescent, Adult, Aged, Aged, 80 and over, Child, Child, Preschool, Colitis, Ulcerative, Crohn Disease, Female, Genetic Markers, Genetic Predisposition to Disease, Humans, Infant, Inflammatory Bowel Diseases, Linkage Disequilibrium, Male, Middle Aged, Nod1 Signaling Adaptor Protein, Polymorphism, Genetic, Sequence Deletion