Identifying Downs Syndrome Heart Defect Candidate Genes

描述（由申请人提供）：与一般人群相比，患有唐氏综合征（DS）的个体发生完全性房室间隔缺损（AVSDs）的风险增加了500倍，AVSDs是一种严重的先天性心脏缺陷（CHD），严重影响该人群的发病率和死亡率。本研究的目的是利用候选基因方法在患有完全AVSDs的DS人群中确定环境暴露和21号染色体上的遗传变异对冠心病易感性的影响。具体来说，1)在10Mb DS心脏关键区域内的候选基因将通过在人类胎儿和成人心脏组织中转录物表达的特征来优先考虑，2)我们目前的AVSD人群的DS将扩大，以促进流行病学和相关性研究，3)候选基因的单核苷酸多态性将被基因分型，利用开发用于三体群体的统计方法进行关联研究。

DESCRIPTION (provided by applicant): Compared to the general population, individuals with Down syndrome (DS) are at a 500-fold increased risk for complete atrioventricular septal defects (AVSDs), a severe form of congenital heart defect (CHD) that significantly impacts morbidity and mortality in this population. The purpose of this study is to identify environmental exposures and genetic variants on chromosome 21 that contribute to CHD susceptibility using a candidate gene approach in a DS population with complete AVSDs. Specifically, 1) candidate genes within the 10Mb DS heart critical region will be prioritized by characterizing transcript expression in human fetal and adult heart tissue, 2) our current DS with AVSD population will be expanded to facilitate epidemiological and association studies, and 3) single nucleotide polymorphisms in candidate genes will be genotyped to conduct an association study utilizing statistical methods developed for use with trisomic populations.