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: 7607278
• 负责人: LESLIE B SMOOT
• 金额: $ 2.39万
• 依托单位: BOSTON CHILDREN'S HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-04-01 至 2008-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7607278
• 关键词: Affect; Candidate Disease Gene; Cardiac; Cardiovascular Abnormalities; Computer Retrieval of Information on Scientific Projects Database; Data; Development; Disease; Ensure; Environmental Risk Factor; Event; Family; Family member; Funding; Genes; Genetic Polymorphism; Goals; Grant; Institution; Investigation; Numbers; Patients; Pediatric Hospitals; Phenotype; Play; Recording of previous events; Research; Research Personnel; Resources; Role; Sampling; Scanning; Source; Surveys; United States National Institutes of Health; congenital heart disorder; design; genetic association; genetic risk factor; genome-wide linkage; novel; prenatal risk factor

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: 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: 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. 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.

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。 本研究的目的是确定在儿童医院随访的CHD患者的表型，并确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。 通过病史，我们将调查可能易患先天性心脏病的环境和非心脏因素，从而在寻找疾病相关多态性时作为混杂因素。 主要目的： 探讨冠心病与候选基因的遗传关联。 假设： 我们预期CHD将与一个或多个已知的候选基因（如NKX 2、TBX 5等）相关。 此外，新的基因可能会被发现，以前没有认识到在先天性心脏病的发展中发挥作用。 次要目的： 如果样本中有合理数量的家庭有多个家庭成员患有CHD，则进行全基因组连锁扫描。 此外，我们将调查环境危险因素，包括母亲的孕前和产前危险因素，这可能有助于冠心病的发展。该数据在解释所鉴定的多态性的意义方面是重要的，特别是在已知为多因素的疾病中。 这些数据将是历史数据，并存在回忆偏倚。 本研究中不会对其进行正式分析。 从这类轶事数据中产生的任何假设都需要进行正式的单独调查，以确保有效性。