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

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。囊性纤维化(CF)患者表现出广泛的疾病严重程度，特别是在肺部表型。虽然这种变异的一部分可以归因于CFTR基因内的特定突变(等位基因异质性)，但这种变异的大部分还没有得到充分的解释。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未连接的基因座上的其他基因的影响。该方案的短期目标是建立测试非CFTR候选基因等位基因的能力，这些等位基因可能在CF肺部疾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肺部疾病有重要修饰作用的基因，这将定义新的治疗靶点。

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.