Crohn?s disease, NOD/CARD15, Montreal classification

Background and Objectives. Crohn?s disease is a multifactorial inflammatory disease affecting mainly the gastrointestinaltract. The genetic factors that are involved in the disease include mainly three mutations of the gene NOD2/CARD15 (R702W, G908R, 3020insC). The aim of this study was to determine the relationship between the presence ofthese variants and disease phenotype.Material and Methods. 70 patients with Crohn?s disease were examined for the presence of the above-mentionedmutations. The researchers used the medical records to retrospectively obtain clinical data and together with the informationobtained prospectively according to the protocol they analysed the connection between gene mutationsand disease phenotype.Results. At least one mutation was found in 22 patients with Crohn?s disease (32%), four patients were found to havetwo different mutations (composed heterozygotes - 6%) and six patients (9%) were homozygotes for the 3020insCgene. No significant differences were found between the groups with wild-type form and the mutated form of theNOD2 / CARD15 gene with respect to age at the time of diagnosis, form of the disease or localization according to theMontreal classification.Conclusion. Mutations of the NOD2 / CARD15 gene did not significantly affect the frequency of reoperations, homozygoteswith 3020insC gene mutations, however, represented a high risk group. The phenotype was not relatedsignificantly to the presence of the examined mutations.