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

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。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 研究中心，而研究中心不一定是研究者所在的机构。 囊性纤维化（CF）患者表现出广泛的疾病严重程度，特别是在肺表型。 虽然这种变异性中的一些可以归因于CFTR基因内的特定突变（等位基因异质性），但这种变异性中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非连锁基因座上的其他基因的影响。 该方案的短期目标是建立检测可能在CF肺病的发病机制和严重程度中起重要作用的非CFTR候选基因等位基因的能力。 长期目标是确定对CF肺病具有重要修饰作用的基因，这将确定新的治疗靶点。

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.