An international group of researchers investigated the relationship between NOD2 genotype and phenotypic characteristics of patients with Crohn's disease.
NOD2 (CARD 15) has recently been identified as a susceptibility gene in Crohn's disease.
Hypotheses about the relation between NOD2 genotype and Crohn's disease phenotype were generated retrospectively, from a group of 446 German patients with this disorder.
Positive findings were verified in prospectively established cohorts of 106 German and 55 Norwegian patients with Crohn's disease.
All patients were genotyped for the main coding mutations in NOD2, denoted SNP8, SNP12, and SNP13, with Taqman technology.
In the retrospective cohort, 6 clinical characteristics showed noteworthy haplotype association.
| Testing for NOD2 genotype may predict Crohn's disease course.
| Lancet |
These were fistulizing, ileal, left colonic and right colonic disease, stenosis, and resection.
In the German prospective cohort, these haplotype associations could be replicated for ileal and right colonic disease.
The authors noted a similar trend in the Norwegian patients.
Dr Jochen Hampe, of the Christian-Albrechts University, Kiel, Germany, said on behalf of the group, "We recorded a distinct relation between NOD2 genotype and phenotype of Crohn's disease."
"Test strategies with NOD2 variations, to predict the clinical course of Crohn's disease, could lead to the development of new therapeutic paradigms," it was concluded.