HFE MUTATIONS AND COLONIC ACF FORMATION AND PROGRESSION

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。我们建议在Joel Levine医生的800例结肠镜筛查患者中对HFE突变、铁摄入量和异常隐窝灶（ACF）的数量和严重程度进行研究。在10月1日NIH截止日期之前，我们希望提供大约35名患者的HFE基因型的初步数据，这些患者已经在康涅狄格大学健康中心的Dan Rosenberg实验室维护的人类ACF存储库中存档。GCRC现在常规对HFE突变进行基因分型。目前，ACF知识库中的约40名受试者中有一半是女性，全部是白人。所研究的HFE多态变异在欧美人群之外极为罕见。这些变体在凯尔特血统的人中最常见。因此，补助金提案将仅限于欧美人。

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. We are proposing a study of HFE mutations, iron intake, and number and severity of aberrant crypt foci (ACF) in 800 screening colonscopy patients from the practice of Dr. Joel Levine. For this October 1 deadline to NIH, we hope to provide preliminary data on the HFE genotypes of the approximately 35 patients already archived in the Human ACF Repository maintained by Dan Rosenberg's laboratory at UConn Health Center. The GCRC now routinely conducts genotyping for HFE mutations. The ~40 subjects in the ACF Repository currently are half women and all caucasion. The HFE polymorphic variants to be studied are extremeely uncommon outside of the Euro-American population. These variants are most common in persons of Celtic origin. Therefore, the grant prposal will be restricted to Euro-Americans.