PHENOTYPIC AND GENETIC RISK FACTORS IN CONGENITAL CARDIOVASCULAR DISEASE

先天性心血管疾病的表型和遗传风险因素

• 批准号: 7380770
• 负责人: LESLIE B SMOOT
• 金额: $ 0.66万
• 依托单位: BOSTON CHILDREN'S HOSPITAL
• 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/7380770
• 关键词: PHENOTYPIC; GENETIC; RISK; FACTORS; CONGENITAL

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. The goal of this study is to define phenotype in patients with CHD followed at Children's Hospital and to identify polymorphisms in known and novel genes that may be associated with congenital cardiovascular disease. By history we will survey for environmental and non-cardiac factors which may predispose to the development of congenital heart disease and thus act as confounders in the search for disease associated polymorphisms. Primary Aim: D. I. To evaluate the genetic association between CHD and selected candidate genes. Hypotheses: We anticipate that CHD will be associated with one or more known candidate genes (such as NKX2, TBX5, etc). Additionally, novel genes may be identified not previously recognized in playing a role in the development of congenital heart disease. Secondary Aim: I. To conduct a genome-wide linkage scan in the event that there are a reasonable number of families in the sample with multiple family members affected with CHD. (This could be undertaken through either of the active Cardiovascular genetics registry protocols. It is not an anticipated event in this study.) Additionally, we will survey for environmental risk factors, including maternal preconception and prenatal risk factors, which may contribute to the development of CHD. This data is important in interpreting significance of identified polymorphisms, particularly in diseases known to be multifactorial. This data will be historical and subject to recall bias. It will not be formally analyzed in this study. Any hypotheses generated from anecdotal data of this type will require formal separate investigation designed to ensure validity.

该子项目是利用 NIH/NCRR 资助的中心拨款提供的资源的众多研究子项目之一。子项目和研究者 (PI) 可能已从另一个 NIH 来源获得主要资金，因此可以在其他 CRISP 条目中得到体现。列出的机构是中心的机构，不一定是研究者的机构。本研究的目的是确定儿童医院随访的先天性心脏病患者的表型，并鉴定可能与先天性心血管疾病相关的已知和新基因的多态性。根据历史，我们将调查可能诱发先天性心脏病发展的环境和非心脏因素，从而在寻找疾病相关多态性时充当混杂因素。 主要目标：D.I. 评估 CHD 与选定候选基因之间的遗传关联。假设：我们预计冠心病将与一种或多种已知候选基因（例如 NKX2、TBX5 等）相关。 此外，可能会鉴定出以前未认识到的新基因在先天性心脏病的发展中发挥的作用。 次要目标： I. 如果样本中存在合理数量的家庭且有多位家庭成员患有 CHD，则进行全基因组连锁扫描。 （这可以通过任一有效的心血管遗传学登记方案进行。这不是本研究中的预期事件。）此外，我们将调查环境风险因素，包括母亲孕前和产前风险因素，这些因素可能会导致先心病的发展。这些数据对于解释已识别的多态性的意义非常重要，特别是在已知的多因素疾病中。该数据将是历史数据，并且可能存在回忆偏差。本研究中不会对其进行正式分析。从此类轶事数据生成的任何假设都需要进行正式的单独调查，以确保有效性。