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Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve
- Source :
- Yang , B , Zhou , W-W , Jiao , J , Nielsen , J B , Mathis , M R , Heydarpour , M , Lettre , G , Folkersen , L W , Prakash , S , Schurmann , C , Fritsche , L , Farnum , G A , Lin , M , Othman , M , Hornsby , W , Driscoll , A , Levasseur , A , Thomas , M , Farhat , L , Dube , M-P , Isselbacher , E M , Franco-Cereceda , A , Guo , D-C , Bottinger , E P , Deeb , G M , Booher , A , Kheterpal , S , Chen , Y E , Kang , H M , Kitzman , J , Cordell , H J , Keavney , B D , Goodship , J A , Ganesh , S K , Abecasis , G , Eagle , K A , Boyle , A P , Loos , R J F , Eriksson , P , Tardif , J-C , Brummett , C M , Milewicz , D M , Body , S C & Willer , C J 2017 , ' Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve ' , Nature Communications , vol. 8 , 15481 .
- Publication Year :
- 2017
-
Abstract
- 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.
Details
- Database :
- OAIster
- Journal :
- Yang , B , Zhou , W-W , Jiao , J , Nielsen , J B , Mathis , M R , Heydarpour , M , Lettre , G , Folkersen , L W , Prakash , S , Schurmann , C , Fritsche , L , Farnum , G A , Lin , M , Othman , M , Hornsby , W , Driscoll , A , Levasseur , A , Thomas , M , Farhat , L , Dube , M-P , Isselbacher , E M , Franco-Cereceda , A , Guo , D-C , Bottinger , E P , Deeb , G M , Booher , A , Kheterpal , S , Chen , Y E , Kang , H M , Kitzman , J , Cordell , H J , Keavney , B D , Goodship , J A , Ganesh , S K , Abecasis , G , Eagle , K A , Boyle , A P , Loos , R J F , Eriksson , P , Tardif , J-C , Brummett , C M , Milewicz , D M , Body , S C & Willer , C J 2017 , ' Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve ' , Nature Communications , vol. 8 , 15481 .
- Notes :
- application/pdf, English
- Publication Type :
- Electronic Resource
- Accession number :
- edsoai.on1007881874
- Document Type :
- Electronic Resource