GENOTYPE/PHENOTYPE CORRELATION IN PEDIATRIC IBD PATIENTS

本子项目是利用由NIH/NCRR资助的中心赠款提供的资源的众多研究子项目之一。子项目和研究者（PI）可能已经从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。列出的机构是中心的，不一定是研究者的机构。在对成年人群的研究中，NOD2基因突变与克罗恩病（CD）易感性相关。特别是，NOD2突变与纤维狭窄和回肠CD独立相关。这些突变在儿科人群中的发生率尚不清楚。由于大多数新发儿童IBD患者表现为炎症性疾病，而长期IBD患者表现为纤维狭窄和/或穿透性疾病，因此对新诊断儿童患者特异性NOD2突变及其表型相关性的分析可能作为疾病可能临床病程的预测因子。我们分析了一组儿科炎症性肠病（IBD）患者的NOD2基因存在，特别是三个先前鉴定的NOD2突变（Arg702Trp， Gly908Arg和Leu1007fsinsC）。此外，还对这些患者的亲生父母进行了基因及其突变分析。收集这些患者的相关临床资料，以评估基因型和表型的相关性。

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.