The c-insertion mutation of the NOD2 gene is associated with fistulizing and fibrostenotic phenotypes in Crohn's disease

NOD2/CARD15 gene polymorphism in patients with inflammatory bowel disease: Is Hungary different?

“…We observed a significant association between the 1007finsC mutation and stenotic disease behaviour. Similar findings have been reported by other investigators [5,[16][17][18] . In our study, this stenotic disease behaviour seemed to lead to more frequent surgical resections at ileal site, since approximately 52% of patients positive for the 1007finsC mutation had ileal surgery compared to about 17% of patients negative for the 1007finsC mutation.…”

“…In our study, this stenotic disease behaviour seemed to lead to more frequent surgical resections at ileal site, since approximately 52% of patients positive for the 1007finsC mutation had ileal surgery compared to about 17% of patients negative for the 1007finsC mutation. The association of ileal resections with mutations in the NOD2/CARD15 gene has been reported by other studies [17] and by our own observation in a large German cohort [19] . In contrast to the frameshift mutation 1007finsC, we were not able to detect any association with all clinical parameters tested for the other two common missense mutations Arg702Trp and Gly908Arg.…”

“…With respect to NOD2/CARD15 mutations, investigations have been performed to analyse the clinical impact of these mutations on Crohn's disease. Associations with ileal involvement [12][13][14][15] , younger age at diagnosis [16] , and fibrostenotic disease behaviour [17,18] have been described. However, only some of these associations were replicated by other investigators.…”

NOD2/CARD15, TLR4 and CD14 mutations in Scottish and Irish Crohn's disease patients: evidence for genetic heterogeneity within Europe?

“…Lesage et al 12 suggested that patients carrying two variant copies of the CARD15/NOD2 gene are at increased risk of ileal involvement, early age at diagnosis and fibrostenotic behaviour of disease. Ahmad et al, 11 Cuthbert et al, 10 and others 9,19,22,25 have also suggested that carriage of allelic variants is associated with ileal involvement in CD. However, as further data emerge, the primary genotype-phenotype relationship remains controversial and most limited by the quality of phenotypic data.…”

The +1059G/C polymorphism in the C‐reactive protein (CRP) gene is associated with involvement of the terminal ileum and decreased serum CRP levels in patients with Crohn's disease

“…[28][29][30][31][32] We recently demonstrated an increased frequency of intestinal stenoses especially in the terminal ileum in homozygous carriers of the CARD15 variant L1007fsinsC (3020insC). 28 Therefore, we determined in all CD patients, whether the three common CD-associated CARD15 variants R702W, G908R, L1007fsinsC were present or not.…”