期刊
PLOS ONE
卷 13, 期 1, 页码 -出版社
PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.pone.0191319
关键词
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资金
- National Institutes of Health (NIH)
- National Heart, Lung, and Blood Institute
- Pediatric Cardiac Genomics Consortium [U01-HL098123, U01-HL098147, U01-HL098153, U01-HL098162, U01-HL098163, U01-HL098188, P50-HL74731, R21HL-098844, R01HL-076773, R01-HL74094]
- Eunice Kennedy Shriver National Institute of Child Health and Human Development [P01HD070454]
- National Center for Advancing Translational Sciences [UL1TR000003]
- National Institute of Environmental Health Sciences [R21-E5024895]
- Cardiovascular Development Consortium [U01-HL098166]
- National Human Genome Research Institute [U54HG006504]
- Columbia University's CTSA grant [UL1-RR024156]
- American Heart Association Award [16GRNT29660001]
- Howard Hughes Medical Institute
- Children's Hospital of Philadelphia
- NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES [UL1TR001863] Funding Source: NIH RePORTER
- NATIONAL HEART, LUNG, AND BLOOD INSTITUTE [U01HL131003, UM1HL098147, UM1HL098123] Funding Source: NIH RePORTER
- OFFICE OF THE DIRECTOR, NATIONAL INSTITUTES OF HEALTH [S10OD018521] Funding Source: NIH RePORTER
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., conotruncaldefects) 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 parentreported 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.
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