(67 web hits)

(14 web hits)

(42 web hits)

(19 web hits)

NOD2 encodes a protein involved in bacterial recognition. This variant is associated with Crohn’s disease in European populations, but not in Korean or Japanese groups.

(1220 web hits)

(4 web hits)

This variant was seen as a compound heterozygote with p.Leu1007fs in a patient with severe Crohn’s disease.

(9 web hits)

(15 web hits)

This variant is associated with an increased susceptibility to Crohn’s disease and other inflammatory bowel diseases (IBD). Assuming an overall prevalence of 0.5% for IBD, this variant implies an increased attributable risk of 2% (5x increased risk, for an overall risk of 2.5% of IBD for people with this variant).

(1160 web hits)

(22 web hits)

GWAS associating with Crohn’s disease

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.