期刊
NATURE COMMUNICATIONS
卷 8, 期 -, 页码 -出版社
NATURE PORTFOLIO
DOI: 10.1038/ncomms15481
关键词
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资金
- FCVC
- Aikens Fund for Aortic Research
- McKay research award
- American Association of Thoracic Surgery (AATS) Graham Foundation
- Thoracic Surgery Foundation of Research and Education (TSFRE)
- Doris Duke Charitable Foundation [2013104, HL122684]
- Danish Heart Foundation
- Lundbeck Foundation
- A.P. Moller Foundation for the Advancement of Medical Science
- MHI Foundation
- Canada Research Chair Program
- Leducq Foundation (MIBAVA)
- Andrea and Charles Bronfman Philanthropies
- NIH [NHGRI U01HG007417]
- Common Fund of the Office of the Director of the National Institutes of Health
- NCI
- NHGRI
- NHLBI
- NIDA
- NIMH
- NINDS
- Broad Institute [HHSN268201000029C]
- van Andel Institute [10ST1035, HHSN261200800001E]
- University of Miami [DA006227, DA033684, N01MH000028]
- University of Geneva [MH090941, MH101814]
- University of Chicago [MH090951, MH090937, MH101820, MH101825]
- University of North Carolina-Chapel Hill [MH090936, MH101819]
- Harvard University [MH090948]
- Stanford University [MH101782]
- Washington University St Louis [MH101810]
- University of Pennsylvania [MH101822]
- [HL109946]
- [HL130705]
- [HL127564]
- [HL114823]
Bicuspid aortic valve (BAV) is a heritable congenital heart defect and an important risk factor for valvulopathy and aortopathy. Here we report a genome-wide association scan of 466 BAV cases and 4,660 age, sex and ethnicity-matched controls with replication in up to 1,326 cases and 8,103 controls. We identify association with a noncoding variant 151 kb from the gene encoding the cardiac-specific transcription factor, GATA4, and near-significance for p.Ser377Gly in GATA4. GATA4 was interrupted by CRISPR-Cas9 in induced pluripotent stem cells from healthy donors. The disruption of GATA4 significantly impaired the transition from endothelial cells into mesenchymal cells, a critical step in heart valve development.
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