Identifying Downs Syndrome Heart Defect Candidate Genes

描述（由申请人提供）：与一般人群相比，唐氏综合征（DS）患者发生完全性房室间隔缺损（AVSD）的风险增加500倍，AVSD是一种严重的先天性心脏病（CHD），对该人群的发病率和死亡率有显著影响。本研究的目的是确定环境暴露和21号染色体上的遗传变异，有助于冠心病的易感性，使用候选基因的方法在DS人群完全AVSD。具体而言，1）将通过表征人胎儿和成人心脏组织中的转录本表达来优先考虑10 Mb DS心脏关键区域内的候选基因，2）我们目前的DS伴AVSD人群将扩大，以促进流行病学和相关性研究，和3）候选基因中的单核苷酸多态性将被基因分型，以利用开发用于以下的统计方法进行关联研究：三体群体

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.