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

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.

Bibliographic Details
Main Authors: Bo Yang, Wei Zhou, Jiao Jiao, Jonas B. Nielsen, Michael R. Mathis, Mahyar Heydarpour, Guillaume Lettre, Lasse Folkersen, Siddharth Prakash, Claudia Schurmann, Lars Fritsche, Gregory A. Farnum, Maoxuan Lin, Mohammad Othman, Whitney Hornsby, Anisa Driscoll, Alexandra Levasseur, Marc Thomas, Linda Farhat, Marie-Pierre Dubé, Eric M. Isselbacher, Anders Franco-Cereceda, Dong-chuan Guo, Erwin P. Bottinger, G. Michael Deeb, Anna Booher, Sachin Kheterpal, Y. Eugene Chen, Hyun Min Kang, Jacob Kitzman, Heather J. Cordell, Bernard D. Keavney, Judith A. Goodship, Santhi K. Ganesh, Gonçalo Abecasis, Kim A. Eagle, Alan P. Boyle, Ruth J. F. Loos, Per Eriksson, Jean-Claude Tardif, Chad M. Brummett, Dianna M. Milewicz, Simon C. Body, Cristen J. Willer
Format: Article
Language:English
Published: Nature Publishing Group 2017-05-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/ncomms15481
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author Bo Yang
Wei Zhou
Jiao Jiao
Jonas B. Nielsen
Michael R. Mathis
Mahyar Heydarpour
Guillaume Lettre
Lasse Folkersen
Siddharth Prakash
Claudia Schurmann
Lars Fritsche
Gregory A. Farnum
Maoxuan Lin
Mohammad Othman
Whitney Hornsby
Anisa Driscoll
Alexandra Levasseur
Marc Thomas
Linda Farhat
Marie-Pierre Dubé
Eric M. Isselbacher
Anders Franco-Cereceda
Dong-chuan Guo
Erwin P. Bottinger
G. Michael Deeb
Anna Booher
Sachin Kheterpal
Y. Eugene Chen
Hyun Min Kang
Jacob Kitzman
Heather J. Cordell
Bernard D. Keavney
Judith A. Goodship
Santhi K. Ganesh
Gonçalo Abecasis
Kim A. Eagle
Alan P. Boyle
Ruth J. F. Loos
Per Eriksson
Jean-Claude Tardif
Chad M. Brummett
Dianna M. Milewicz
Simon C. Body
Cristen J. Willer
spellingShingle Bo Yang
Wei Zhou
Jiao Jiao
Jonas B. Nielsen
Michael R. Mathis
Mahyar Heydarpour
Guillaume Lettre
Lasse Folkersen
Siddharth Prakash
Claudia Schurmann
Lars Fritsche
Gregory A. Farnum
Maoxuan Lin
Mohammad Othman
Whitney Hornsby
Anisa Driscoll
Alexandra Levasseur
Marc Thomas
Linda Farhat
Marie-Pierre Dubé
Eric M. Isselbacher
Anders Franco-Cereceda
Dong-chuan Guo
Erwin P. Bottinger
G. Michael Deeb
Anna Booher
Sachin Kheterpal
Y. Eugene Chen
Hyun Min Kang
Jacob Kitzman
Heather J. Cordell
Bernard D. Keavney
Judith A. Goodship
Santhi K. Ganesh
Gonçalo Abecasis
Kim A. Eagle
Alan P. Boyle
Ruth J. F. Loos
Per Eriksson
Jean-Claude Tardif
Chad M. Brummett
Dianna M. Milewicz
Simon C. Body
Cristen J. Willer
Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve
Nature Communications
author_facet Bo Yang
Wei Zhou
Jiao Jiao
Jonas B. Nielsen
Michael R. Mathis
Mahyar Heydarpour
Guillaume Lettre
Lasse Folkersen
Siddharth Prakash
Claudia Schurmann
Lars Fritsche
Gregory A. Farnum
Maoxuan Lin
Mohammad Othman
Whitney Hornsby
Anisa Driscoll
Alexandra Levasseur
Marc Thomas
Linda Farhat
Marie-Pierre Dubé
Eric M. Isselbacher
Anders Franco-Cereceda
Dong-chuan Guo
Erwin P. Bottinger
G. Michael Deeb
Anna Booher
Sachin Kheterpal
Y. Eugene Chen
Hyun Min Kang
Jacob Kitzman
Heather J. Cordell
Bernard D. Keavney
Judith A. Goodship
Santhi K. Ganesh
Gonçalo Abecasis
Kim A. Eagle
Alan P. Boyle
Ruth J. F. Loos
Per Eriksson
Jean-Claude Tardif
Chad M. Brummett
Dianna M. Milewicz
Simon C. Body
Cristen J. Willer
author_sort Bo Yang
title Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve
title_short Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve
title_full Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve
title_fullStr Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve
title_full_unstemmed Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve
title_sort protein-altering and regulatory genetic variants near gata4 implicated in bicuspid aortic valve
publisher Nature Publishing Group
series Nature Communications
issn 2041-1723
publishDate 2017-05-01
description 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.
url https://doi.org/10.1038/ncomms15481
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spelling doaj-746483d8d43040b4bb874c6651724a722021-05-11T07:15:11ZengNature Publishing GroupNature Communications2041-17232017-05-018111010.1038/ncomms15481Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valveBo Yang0Wei Zhou1Jiao Jiao2Jonas B. Nielsen3Michael R. Mathis4Mahyar Heydarpour5Guillaume Lettre6Lasse Folkersen7Siddharth Prakash8Claudia Schurmann9Lars Fritsche10Gregory A. Farnum11Maoxuan Lin12Mohammad Othman13Whitney Hornsby14Anisa Driscoll15Alexandra Levasseur16Marc Thomas17Linda Farhat18Marie-Pierre Dubé19Eric M. Isselbacher20Anders Franco-Cereceda21Dong-chuan Guo22Erwin P. Bottinger23G. Michael Deeb24Anna Booher25Sachin Kheterpal26Y. Eugene Chen27Hyun Min Kang28Jacob Kitzman29Heather J. Cordell30Bernard D. Keavney31Judith A. Goodship32Santhi K. Ganesh33Gonçalo Abecasis34Kim A. Eagle35Alan P. Boyle36Ruth J. F. Loos37Per Eriksson38Jean-Claude Tardif39Chad M. Brummett40Dianna M. Milewicz41Simon C. Body42Cristen J. Willer43Department of Cardiac Surgery, University of MichiganDepartment of Computational Medicine and Bioinformatics, University of MichiganDepartment of Cardiac Surgery, University of MichiganDivision of Cardiovascular Medicine, Department of Internal Medicine, University of MichiganDepartment of Anesthesiology, University of MichiganDepartment of Anesthesiology, Perioperative, and Pain Medicine, Brigham and Women's Hospital, Harvard Medical SchoolMontreal Heart InstituteDepartment of Medicine, Cardiovascular Medicine Unit, Center for Molecular Medicine, Karolinska University Hospital Solna, Karolinska InstitutetDepartment of Internal Medicine, Division of Medical Genetics, University of Texas Health Science Center at Houston McGovern Medical SchoolThe Charles Bronfman Institute for Personalized Medicine, The Icahn School of Medicine at Mount SinaiDepartment of Biostatistics, University of MichiganDepartment of Computational Medicine and Bioinformatics, University of MichiganDivision of Cardiovascular Medicine, Department of Internal Medicine, University of MichiganDepartment of Ophthalmology and Visual Sciences, University of MichiganFrankel Cardiovascular Center, University of MichiganFrankel Cardiovascular Center, University of MichiganFrankel Cardiovascular Center, University of MichiganFrankel Cardiovascular Center, University of MichiganFrankel Cardiovascular Center, University of MichiganMontreal Heart InstituteDepartment of Anesthesiology, Perioperative, and Pain Medicine, Brigham and Women's Hospital, Harvard Medical SchoolDepartment of Molecular Medicine and Surgery, Cardiothoracic Surgery Unit, Karolinska University Hospital Solna, Karolinska InstitutetDepartment of Internal Medicine, Division of Medical Genetics, University of Texas Health Science Center at Houston McGovern Medical SchoolThe Charles Bronfman Institute for Personalized Medicine, The Icahn School of Medicine at Mount SinaiDepartment of Cardiac Surgery, University of MichiganFrankel Cardiovascular Center, University of MichiganDepartment of Anesthesiology, University of MichiganDepartment of Cardiac Surgery, University of MichiganDepartment of Biostatistics, University of MichiganDepartment of Computational Medicine and Bioinformatics, University of MichiganInstitute of Genetic Medicine, Newcastle UniversityDivision of Cardiovascular Sciences, Faculty of Biology, Medicine and Health, The University of ManchesterInstitute of Genetic Medicine, Newcastle UniversityFrankel Cardiovascular Center, University of MichiganDepartment of Biostatistics, University of MichiganFrankel Cardiovascular Center, University of MichiganDepartment of Computational Medicine and Bioinformatics, University of MichiganThe Charles Bronfman Institute for Personalized Medicine, The Icahn School of Medicine at Mount SinaiDepartment of Medicine, Cardiovascular Medicine Unit, Center for Molecular Medicine, Karolinska University Hospital Solna, Karolinska InstitutetMontreal Heart InstituteDepartment of Anesthesiology, University of MichiganDepartment of Internal Medicine, Division of Medical Genetics, University of Texas Health Science Center at Houston McGovern Medical SchoolDepartment of Anesthesiology, Perioperative, and Pain Medicine, Brigham and Women's Hospital, Harvard Medical SchoolFrankel Cardiovascular Center, University of MichiganBicuspid 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.https://doi.org/10.1038/ncomms15481