MULTICENTER INVESTIGATION OF GENETIC MODIFIER IN CF LUNG OR LIVER DISEASE STUDY

CF 肺病或肝病研究中基因修饰剂的多中心研究

• 批准号: 7604835
• 负责人: RICHARD C AHRENS
• 金额: $ 0.01万
• 依托单位: UNIVERSITY OF IOWA
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-03-01 至 2007-09-16
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7604835
• 关键词: Candidate Disease Gene; Computer Retrieval of Information on Scientific Projects Database; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Funding; Genes; Genetic; Goals; Grant; Heterogeneity; Human Genome; Inborn Genetic Diseases; Institution; Investigation; Liver diseases; Lung; Mutation; Pathogenesis; Phenotype; Play; Protocols documentation; Pulmonary Cystic Fibrosis; Range; Research; Research Personnel; Resources; Role; Severities; Severity of illness; Source; Testing; United States National Institutes of Health; cystic fibrosis patients; novel therapeutics; therapeutic target

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. Patients with cystic fibrosis (CF) display a wide range of disease severity, particularly in pulmonary phenotype. Although some of this variability can be attributed to specific mutations within the CFTR gene (allelic heterogeneity), much of this variability has not been adequately explained. Evidence is accumulating that phenotypic heterogeneity associated with many inherited disorders is due in substantial part to the influence of other genes at one or more unlinked loci in the human genome. The short-term goal of this protocol is to establish the capability to test non-CFTR candidate gene allelels that may play important roles in the pathogenesis and severity of CF lung disease. The long-term goal is to identify genes that have important modifying effects on CF lung disease, which will define new therapeutic targets.

该子项目是利用该技术的众多研究子项目之一 资源由 NIH/NCRR 资助的中心拨款提供。子项目及 研究者 (PI) 可能已从 NIH 的另一个来源获得主要资金， 因此可以在其他 CRISP 条目中表示。列出的机构是 对于中心来说，它不一定是研究者的机构。 囊性纤维化 (CF) 患者表现出多种疾病严重程度，尤其是肺部表型。 尽管这种变异性的一部分可归因于 CFTR 基因内的特定突变（等位基因异质性），但这种变异性的大部分尚未得到充分解释。 越来越多的证据表明，与许多遗传性疾病相关的表型异质性在很大程度上是由于人类基因组中一个或多个不相关基因座上其他基因的影响。 该协议的短期目标是建立测试非 CFTR 候选基因等位基因的能力，这些基因等位基因可能在 CF 肺病的发病机制和严重程度中发挥重要作用。 长期目标是确定对 CF 肺病具有重要改变作用的基因，这将确定新的治疗靶点。