Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve

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....

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Vydáno v:Nature communications Ročník 8; číslo 1; s. 15481 - 10
Hlavní autoři: Yang, Bo, Zhou, Wei, Jiao, Jiao, Nielsen, Jonas B., Mathis, Michael R., Heydarpour, Mahyar, Lettre, Guillaume, Folkersen, Lasse, Prakash, Siddharth, Schurmann, Claudia, Fritsche, Lars, Farnum, Gregory A., Lin, Maoxuan, Othman, Mohammad, Hornsby, Whitney, Driscoll, Anisa, Levasseur, Alexandra, Thomas, Marc, Farhat, Linda, Dubé, Marie-Pierre, Isselbacher, Eric M., Franco-Cereceda, Anders, Guo, Dong-chuan, Bottinger, Erwin P., Deeb, G. Michael, Booher, Anna, Kheterpal, Sachin, Chen, Y. Eugene, Kang, Hyun Min, Kitzman, Jacob, Cordell, Heather J., Keavney, Bernard D., Goodship, Judith A., Ganesh, Santhi K., Abecasis, Gonçalo, Eagle, Kim A., Boyle, Alan P., Loos, Ruth J. F., Eriksson, Per, Tardif, Jean-Claude, Brummett, Chad M., Milewicz, Dianna M., Body, Simon C., Willer, Cristen J.
Médium: Journal Article
Jazyk:angličtina
Vydáno: London Nature Publishing Group UK 25.05.2017
Nature Publishing Group
Nature Portfolio
Témata:
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13/89
14
45
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631/208/205/2138
631/208/4041/3196
692/4019/592/2727
692/699/75/1539
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Amino Acid Substitution
Anesthesiology
Aortic Valve - abnormalities
Aortic Valve - embryology
Aortic Valve - metabolism
Bicuspid Aortic Valve Disease
Case-Control Studies
Cell Transdifferentiation - genetics
CRISPR
CRISPR-Cas Systems
Female
GATA4 Transcription Factor - deficiency
GATA4 Transcription Factor - genetics
GATA4 Transcription Factor - metabolism
Gene Regulatory Networks
Genetic variance
Genetic Variation
Genome-Wide Association Study
Genomes
Heart
Heart Defects, Congenital - genetics
Heart Valve Diseases - embryology
Heart Valve Diseases - genetics
Heart Valve Diseases - metabolism
Hospitals
Humanities and Social Sciences
Humans
Induced Pluripotent Stem Cells - metabolism
Induced Pluripotent Stem Cells - pathology
Internal medicine
Male
Medicine
multidisciplinary
Mutation, Missense
Phenotype
Proteins
Risk factors
RNA, Untranslated - genetics
Science
Science (multidisciplinary)
Stem cells
Surgery
Transcription factors
New York
Canada
Sweden
United Kingdom > UK
United States > US
Quebec Canada
Montreal Quebec Canada
Ann Arbor Michigan
Michigan
ISSN:2041-1723, 2041-1723
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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. Bicuspid aortic valve (BAV) is the most common human congenital cardiovascular malformation. Here, the authors perform a genome-wide association study for BAV and identify risk variants in the gene region of cardiac-specific transcription factor GATA4 and implicate GATA4 in heart valve development.
AbstractList Bicuspid aortic valve (BAV) is the most common human congenital cardiovascular malformation. Here, the authors perform a genome-wide association study for BAV and identify risk variants in the gene region of cardiac-specific transcription factor GATA4 and implicate GATA4 in heart valve development.
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. Bicuspid aortic valve (BAV) is the most common human congenital cardiovascular malformation. Here, the authors perform a genome-wide association study for BAV and identify risk variants in the gene region of cardiac-specific transcription factor GATA4 and implicate GATA4 in heart valve development.
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.
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. Bicuspid aortic valve (BAV) is the most common human congenital cardiovascular malformation. Here, the authors perform a genome-wide association study for BAV and identify risk variants in the gene region of cardiac-specific transcription factor GATA4 and implicate GATA4 in heart valve development.
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.
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.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.
ArticleNumber 15481
Author Levasseur, Alexandra
Brummett, Chad M.
Folkersen, Lasse
Abecasis, Gonçalo
Tardif, Jean-Claude
Booher, Anna
Kheterpal, Sachin
Othman, Mohammad
Hornsby, Whitney
Milewicz, Dianna M.
Eriksson, Per
Boyle, Alan P.
Fritsche, Lars
Willer, Cristen J.
Thomas, Marc
Nielsen, Jonas B.
Schurmann, Claudia
Deeb, G. Michael
Driscoll, Anisa
Franco-Cereceda, Anders
Loos, Ruth J. F.
Jiao, Jiao
Mathis, Michael R.
Farhat, Linda
Kitzman, Jacob
Eagle, Kim A.
Lettre, Guillaume
Dubé, Marie-Pierre
Zhou, Wei
Guo, Dong-chuan
Isselbacher, Eric M.
Ganesh, Santhi K.
Body, Simon C.
Kang, Hyun Min
Prakash, Siddharth
Heydarpour, Mahyar
Yang, Bo
Keavney, Bernard D.
Bottinger, Erwin P.
Farnum, Gregory A.
Lin, Maoxuan
Cordell, Heather J.
Goodship, Judith A.
Chen, Y. Eugene
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BackLink https://www.ncbi.nlm.nih.gov/pubmed/28541271$$D View this record in MEDLINE/PubMed
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Snippet 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...
Bicuspid aortic valve (BAV) is the most common human congenital cardiovascular malformation. Here, the authors perform a genome-wide association study for BAV...
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SubjectTerms 13
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Amino Acid Substitution
Anesthesiology
Aortic Valve - abnormalities
Aortic Valve - embryology
Aortic Valve - metabolism
Bicuspid Aortic Valve Disease
Case-Control Studies
Cell Transdifferentiation - genetics
CRISPR
CRISPR-Cas Systems
Female
GATA4 Transcription Factor - deficiency
GATA4 Transcription Factor - genetics
GATA4 Transcription Factor - metabolism
Gene Regulatory Networks
Genetic variance
Genetic Variation
Genome-Wide Association Study
Genomes
Heart
Heart Defects, Congenital - genetics
Heart Valve Diseases - embryology
Heart Valve Diseases - genetics
Heart Valve Diseases - metabolism
Hospitals
Humanities and Social Sciences
Humans
Induced Pluripotent Stem Cells - metabolism
Induced Pluripotent Stem Cells - pathology
Internal medicine
Male
Medicine
multidisciplinary
Mutation, Missense
Phenotype
Proteins
Risk factors
RNA, Untranslated - genetics
Science
Science (multidisciplinary)
Stem cells
Surgery
Transcription factors
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Title Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve
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Volume 8
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