Hoang Thanh T, Goldmuntz Elizabeth, Roberts Amy E, Chung Wendy K, Kline Jennie K, Deanfield John E, Giardini Alessandro, Aleman Adolfo, Gelb Bruce D, Mac Neal Meghan, Porter George A, Kim Richard, Brueckner Martina, Lifton Richard P, Edman Sharon, Woyciechowski Stacy, Mitchell Laura E, Agopian A J
Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, Texas, United States of America.
Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America.
PLoS One. 2018 Jan 19;13(1):e0191319. doi: 10.1371/journal.pone.0191319. eCollection 2018.
The Pediatric Cardiac Genomics Consortium (PCGC) designed the Congenital Heart Disease Genetic Network Study to provide phenotype and genotype data for a large congenital heart defects (CHDs) cohort. This article describes the PCGC cohort, overall and by major types of CHDs (e.g., conotruncal defects) and subtypes of conotrucal heart defects (e.g., tetralogy of Fallot) and left ventricular outflow tract obstructions (e.g., hypoplastic left heart syndrome). Cases with CHDs were recruited through ten sites, 2010-2014. Information on cases (N = 9,727) and their parents was collected through interviews and medical record abstraction. Four case characteristics, eleven parental characteristics, and thirteen parent-reported neurodevelopment outcomes were summarized using counts and frequencies and compared across CHD types and subtypes. Eleven percent of cases had a genetic diagnosis. Among cases without a genetic diagnosis, the majority had conotruncal heart defects (40%) or left ventricular outflow tract obstruction (21%). Across CHD types, there were significant differences (p<0.05) in the distribution of all four case characteristics (e.g., sex), four parental characteristics (e.g., maternal pregestational diabetes), and five neurodevelopmental outcomes (e.g., learning disabilities). Several characteristics (e.g., sex) were also significantly different across CHD subtypes. The PCGC cohort is one of the largest CHD cohorts available for the study of genetic determinants of risk and outcomes. The majority of cases do not have a genetic diagnosis. This description of the PCGC cohort, including differences across CHD types and subtypes, provides a reference work for investigators who are interested in collaborating with or using publically available resources from the PCGC.
儿科心脏基因组学联盟（PCGC）设计了先天性心脏病遗传网络研究，以提供一个大型先天性心脏病（CHD）队列的表型和基因型数据。本文描述了PCGC队列，整体情况以及按主要先天性心脏病类型（如圆锥动脉干畸形）、圆锥动脉干心脏畸形亚型（如法洛四联症）和左心室流出道梗阻（如左心发育不全综合征）分类的情况。2010年至2014年期间，通过十个地点招募了患有先天性心脏病的病例。通过访谈和病历摘要收集了病例（N = 9727）及其父母的信息。使用计数和频率总结了四项病例特征、十一项父母特征和十三项父母报告的神经发育结果，并在先天性心脏病的类型和亚型之间进行了比较。11%的病例有基因诊断。在没有基因诊断的病例中，大多数患有圆锥动脉干心脏畸形（40%）或左心室流出道梗阻（21%）。在各种先天性心脏病类型中，所有四项病例特征（如性别）、四项父母特征（如母亲孕前糖尿病）和五项神经发育结果（如学习障碍）的分布存在显著差异（p<0.05）。在先天性心脏病亚型中，几项特征（如性别）也存在显著差异。PCGC队列是可用于研究风险和结果的遗传决定因素的最大先天性心脏病队列之一。大多数病例没有基因诊断。对PCGC队列的描述，包括先天性心脏病类型和亚型之间的差异，为有兴趣与PCGC合作或使用其公开可用资源的研究人员提供了一份参考资料。
