|| common in complete genomics
also known as rs2066847
] The CTLA4 variants may interact with the IL23R- and NOD2-conferred risk in development of Crohn's disease
[PMID 20412372] NOD2/CARD15 genotype, cardiovascular disease and cancer in 43,600 individuals from the general population
[PMID 22269043] Clinical predictors of inflammatory bowel disease in a genetically well-defined Caucasian population
[PMID 16519819] Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases.
[PMID 18715515] Lack of evidence for association of primary sclerosing cholangitis and primary biliary cirrhosis with risk alleles for Crohn's disease in Polish patients.
[PMID 19570052] NOD2/CARD15 genotype and common gastrointestinal diseases in 43,600 individuals.
[PMID 20371648] Penetrance of NOD2/CARD15 genetic variants in the general population.
[PMID 22563200] Association of NOD1 and NOD2 genes polymorphisms with Helicobacter pylori related gastric cancer in a Chinese population.
|| not reviewed
|| Insufficiently evaluated not reviewed
|| Three Nod2 variants, G908R, R702W, and a frameshift deletion mutation at L1007 (L1007fsinsC), have been linked to CD development. Although the precise mechanisms by which Nod2 promotes disease remain unclear, CD-associated human Nod2 variants exhibit reduced capacity to activate NF-κB following MDP stimulation, suggesting that the loss of Nod2 activation promotes CD.