GENOTYPE/PHENOTYPE CORRELATION IN PEDIATRIC IBD PATIENTS

该子项目是利用NIH/NCRR资助的中心赠款提供的资源的许多研究子项目之一。子项目和研究者（PI）可能从另一个NIH来源获得主要资金，因此可以在其他CRISP条目中表示。所列机构为中心，不一定是研究者所在机构。在成人人群的研究中，NOD 2基因的突变与克罗恩病（CD）的易感性相关。特别是，NOD 2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。由于大多数新发小儿IBD患者存在炎性疾病，而不是表现出纤维狭窄和/或穿透性疾病的长期IBD患者，因此对新诊断的小儿患者中特定NOD 2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。 我们分析了一组儿童发病的炎症性肠病（IBD）患者的NOD 2基因的存在，特别是三个以前确定的NOD 2突变（Arg 702 Trp，Gly 908 Arg和Leu 1007 fsinsC）。此外，还分析了这些患者的生物学父母的基因及其突变。从这些患者中收集相关的临床数据，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.