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.

这个子项目是利用由NIH/NCRR资助的中心拨款提供的资源的许多研究子项目之一。子项目和调查员(PI)可能从另一个NIH来源获得了主要资金，因此可能会出现在其他CRISE条目中。列出的机构是针对中心的，而不一定是针对调查员的机构。我们建议对Joel Levine博士的800名结肠镜检查患者进行一项关于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。在美国国立卫生研究院10月1日的最后期限前，我们希望提供已在人类ACF资料库中存档的大约35名患者的初步数据，该资料库由丹·罗森伯格在康涅狄格州健康中心的实验室维护。GCRC现在例行进行HFE突变的基因分型。ACF资料库中的大约40名受试者目前一半是女性，全部是高加索人。将要研究的HFE多态变异在欧美人群之外是极其罕见的。这些变异在凯尔特血统的人中最为常见。因此，拨款比例将仅限于欧洲裔美国人。