HEIRS STUDY

继承人研究

• 批准号: 7374240
• 负责人: Christine E. Mclaren
• 金额: $ 7.78万
• 依托单位: UNIVERSITY OF CALIFORNIA, SAN DIEGO
• 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 2006-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7374240
• 关键词: community; family; genotype; iron poisoning

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 propose to serve as a Field Center to screen 20,000 primary-care patients for iron overload and hereditary hemochromatosis at the ambulatory clinics of the University of California, Irvine (UCI). In addition, we will arrange collaboration with the Vietnamese Community of Orange County (VNCOC), Asian Health Center, the Laguna Beach Community Clinic, Kaiser Permanente Clinic in Santa Ana, Healthcare System 2000 Health Care Clinic in Garden Grove, Nhan Hoa Comprehensive Healthcare Clinic, and the Huntington Beach Community Clinic. The overall objective of the screening effort will be to contribute to a national study of the prevalence, genetic and environmental determinants, and potential clinical, personal, and societal impact of iron overload and hereditary hemochromatosis. Our specific aims are the following: 1. Participate in protocol development, OMB clearance, training, pilot testing, and protocol modification. 2. Conduct phenotypic and genotypic screening for iron overload and hemochromatosis in primary care-based settings and assess quantitative and qualitative ethical, legal, and social issues (ELSI) related to implementation of primary care-based screening for iron overload and hemochromatosis. 3. Perform comprehensive clinical examinations of phenotype and/or genotype-positive individuals and a random sample of control subjects. 4. Conduct family studies of genotype-positive participants and/or participants with hemochromatosis including a morbidity and mortality follow-up in all main or family study participants. 5. Conduct an investigator-initiated substudy to determine optimal screening thresholds of transferrin saturation for detection of iron overload and hemochromatosis.

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。我们建议在加州大学欧文分校（UCI）的门诊诊所作为一个现场中心，对20，000名初级保健患者进行铁过载和遗传性血色病的筛查。此外，我们还将安排与橙子县越南社区（VNCOC）、亚洲健康中心、拉古纳海滩社区诊所、圣安娜的Kaiser Permanente诊所、加登格罗夫的保健系统2000保健诊所、Nhan Hoa综合保健诊所和亨廷顿海滩社区诊所的合作。筛查工作的总体目标将有助于对铁超载和遗传性血色病的患病率、遗传和环境决定因素以及潜在的临床、个人和社会影响进行全国性研究。我们的具体目标如下：1.参与方案开发、OMB审批、培训、中试和方案修改。2.在基于初级保健的环境中进行铁过载和血色病的表型和基因型筛查，并评估与实施基于初级保健的铁过载和血色病筛查相关的定量和定性伦理、法律的和社会问题（ELSI）。3.对表型和/或基因型阳性个体和对照受试者的随机样本进行全面的临床检查。4.对基因型阳性受试者和/或血色素沉着症受试者进行家族研究，包括对所有主要或家族研究受试者进行发病率和死亡率随访。5.进行一项由透析器启动的子研究，以确定用于检测铁过载和血色病的转铁蛋白饱和度的最佳筛选阈值。