A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease

By Y. Ogura, D. Bonen, N. Inohara, Dan L. Nicolae, Felicia F. Chen, Richard Ramos, Heidi M. Britton, Thomas Moran, Reda Karaliuskas, R. Duerr and 7 more. Nature, 2001

5,107 citations recorded by the source corpus.

Subfields: Genetics, Immunology, Surgery

View Paper: https://www.semanticscholar.org/paper/9539bd9020db3ee3d98aec0a70c1240802f77417

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Citations in the corpus

Innate immunity gone awry: linking microbial infections to chronic inflammation and cancer. (2006, background): “Approximately 40% of CD cases found in Caucasians are linked to sequences variants of the NOD2 locus, homozygosity to any of which increases disease risk by up to 40-fold (Hugot et al., 2001; Ogura et al., 2001).”
Dysbiosis of the faecal microbiota in patients with Crohn's disease and their unaffected relatives (2011, background): “belongs to the family of pattern recognition receptors (PRRs) which are part of the human innate immunity.”
Negative regulation of Toll-like receptor-mediated immune responses (2005, result): “Consistent with this, patients with CROHN'S DISEASE carry a mutation in the leucine-rich repeat region of the NOD2 gene, which results in impaired MDP recognitio”
Regulation of cytokine signaling and inflammation. (2002, background): “Furthermore, the NOD2 mutation, recently described in some Crohn disease (CD) patients, also suggests that the NF- B pathway is necessary for the resolution of inflammation, since NOD2 is a potential activator of the NF- B pathway [19,20].”
The genetics and immunopathogenesis of inflammatory bowel disease (2008, background): “NOD2 polymorphisms were the first definitive risk factors identified for Crohn's diseas”
RICK/Rip2/CARDIAK mediates signalling for receptors of the innate and adaptive immune systems (2002, background): “An increasing number of members of this family have been identified (Nod1/CARD4, Nod2, DEFCAP/NAC, CARD12/Ipaf/CLAN), and by analogy to the plant molecules these data imply that, like the TLR family, Nod proteins are a diverse family of molecules designed to detect pathogens in intracellular compart”
A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans (2002, result): “Our results give new insight to understanding the disease and, like Crohn diseas”
Interaction between microbiota and immunity in health and disease (2020, background): “Among these, mutation in the NOD2 gene was the first to be confirmed to be strongly associated with susceptibility to CD.(157,158) NOD2 is an intracellular PRR capable of recognizing bacterial peptidoglycan-conserved motifs.”
Pathomechanisms of Oxidative Stress in Inflammatory Bowel Disease and Potential Antioxidant Therapies (2017, background): “In CD, NOD2/CARD15 is the most important locus, and it can affect the mucosal recognition of bacteria and contribute to the duration of nuclear factor kappa B (NF-κB) activation and inflammation [82].”
Innate and adaptive immunity in inflammatory bowel disease. (2014, background): “NOD2 was the first risk gene to be identified to confer increased risk to CD [21,22].”
Integrative omics for health and disease (2018, background): “…genetic variation data, a challenge exists in mapping SNPs to the affected gene: in some cases, the effect of the variant is clear — such as a frameshift variant in an immune-response-related gene, NOD2 , in Crohn’s disease 27 — but more often, the affected gene for a variant may be ambiguous 28 .”