HFE MUTATIONS AND COLONIC ACF FORMATION AND PROGRESSION

HFE 突变与结肠 ACF 的形成和进展

• 批准号: 7377360
• 负责人: Richard L Stevens
• 金额: $ 0.03万
• 依托单位: UNIVERSITY OF CONNECTICUT SCH OF MED/DNT
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-04-01 至 2007-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7377360
• 关键词: HFE; MUTATIONS; COLONIC; ACF; FORMATION

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.

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来源获得了主要资金，因此可以在其他CRISP条目中表示。所列机构为中心机构，不一定为研究者机构。我们建议在800例来自Joel Levine医生的结肠镜检查患者中进行一项HFE突变、铁摄入量以及异常隐窝病灶（ACF）数量和严重程度的研究。在10月1日提交给NIH的最后期限内，我们希望提供大约35名患者的HFE基因型的初步数据，这些患者已经存档在由康涅狄格大学健康中心丹·罗森伯格实验室维护的人类ACF库中。GCRC现在定期对HFE突变进行基因分型。目前，ACF资料库中的约40名受试者中有一半是妇女，全部是高加索人。待研究的HFE多态性变体在欧美人群之外是极其罕见的。这些变体在凯尔特血统的人中最常见。因此，赠款将仅限于欧洲裔美国人。