GENOTYPE/PHENOTYPE CORRELATION IN PEDIATRIC IBD PATIENTS

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This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. In studies of adult populations, mutations in the NOD2 gene have been correlated with susceptibility to Crohn's disease (CD). In particular, NOD2 mutations have been independently associated with both fibrostenosing and ileal CD. The rate of incidence of these mutations in pediatric populations is not known. Since the majority of new-onset pediatric IBD patients present with inflammatory disease, as opposed to long-term IBD patients that exhibit fibrostenosing and/or penetrating disease, the analysis of specific NOD2 mutations and their phenotypic correlations in newly diagnosed pediatric patients could potentially serve as a predictor of the likely clinical course of disease. We analyzed a cohort of patients with pediatric-onset inflammatory bowel disease (IBD) for the presence of the NOD2 gene, specifically for three previously identified NOD2 mutations (Arg702Trp, Gly908Arg, and Leu1007fsinsC). In addition, the biological parents of these patients were also analyzed for the gene and its mutations. Relevant clinical data was gathered from these patients to evaluate genotype and phenotype correlations.