Nature Communications (May 2017)
Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve
- 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
Affiliations
- Bo Yang
- Department of Cardiac Surgery, University of Michigan
- Wei Zhou
- Department of Computational Medicine and Bioinformatics, University of Michigan
- Jiao Jiao
- Department of Cardiac Surgery, University of Michigan
- Jonas B. Nielsen
- Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan
- Michael R. Mathis
- Department of Anesthesiology, University of Michigan
- Mahyar Heydarpour
- Department of Anesthesiology, Perioperative, and Pain Medicine, Brigham and Women's Hospital, Harvard Medical School
- Guillaume Lettre
- Montreal Heart Institute
- Lasse Folkersen
- Department of Medicine, Cardiovascular Medicine Unit, Center for Molecular Medicine, Karolinska University Hospital Solna, Karolinska Institutet
- Siddharth Prakash
- Department of Internal Medicine, Division of Medical Genetics, University of Texas Health Science Center at Houston McGovern Medical School
- Claudia Schurmann
- The Charles Bronfman Institute for Personalized Medicine, The Icahn School of Medicine at Mount Sinai
- Lars Fritsche
- Department of Biostatistics, University of Michigan
- Gregory A. Farnum
- Department of Computational Medicine and Bioinformatics, University of Michigan
- Maoxuan Lin
- Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan
- Mohammad Othman
- Department of Ophthalmology and Visual Sciences, University of Michigan
- Whitney Hornsby
- Frankel Cardiovascular Center, University of Michigan
- Anisa Driscoll
- Frankel Cardiovascular Center, University of Michigan
- Alexandra Levasseur
- Frankel Cardiovascular Center, University of Michigan
- Marc Thomas
- Frankel Cardiovascular Center, University of Michigan
- Linda Farhat
- Frankel Cardiovascular Center, University of Michigan
- Marie-Pierre Dubé
- Montreal Heart Institute
- Eric M. Isselbacher
- Department of Anesthesiology, Perioperative, and Pain Medicine, Brigham and Women's Hospital, Harvard Medical School
- Anders Franco-Cereceda
- Department of Molecular Medicine and Surgery, Cardiothoracic Surgery Unit, Karolinska University Hospital Solna, Karolinska Institutet
- Dong-chuan Guo
- Department of Internal Medicine, Division of Medical Genetics, University of Texas Health Science Center at Houston McGovern Medical School
- Erwin P. Bottinger
- The Charles Bronfman Institute for Personalized Medicine, The Icahn School of Medicine at Mount Sinai
- G. Michael Deeb
- Department of Cardiac Surgery, University of Michigan
- Anna Booher
- Frankel Cardiovascular Center, University of Michigan
- Sachin Kheterpal
- Department of Anesthesiology, University of Michigan
- Y. Eugene Chen
- Department of Cardiac Surgery, University of Michigan
- Hyun Min Kang
- Department of Biostatistics, University of Michigan
- Jacob Kitzman
- Department of Computational Medicine and Bioinformatics, University of Michigan
- Heather J. Cordell
- Institute of Genetic Medicine, Newcastle University
- Bernard D. Keavney
- Division of Cardiovascular Sciences, Faculty of Biology, Medicine and Health, The University of Manchester
- Judith A. Goodship
- Institute of Genetic Medicine, Newcastle University
- Santhi K. Ganesh
- Frankel Cardiovascular Center, University of Michigan
- Gonçalo Abecasis
- Department of Biostatistics, University of Michigan
- Kim A. Eagle
- Frankel Cardiovascular Center, University of Michigan
- Alan P. Boyle
- Department of Computational Medicine and Bioinformatics, University of Michigan
- Ruth J. F. Loos
- The Charles Bronfman Institute for Personalized Medicine, The Icahn School of Medicine at Mount Sinai
- Per Eriksson
- Department of Medicine, Cardiovascular Medicine Unit, Center for Molecular Medicine, Karolinska University Hospital Solna, Karolinska Institutet
- Jean-Claude Tardif
- Montreal Heart Institute
- Chad M. Brummett
- Department of Anesthesiology, University of Michigan
- Dianna M. Milewicz
- Department of Internal Medicine, Division of Medical Genetics, University of Texas Health Science Center at Houston McGovern Medical School
- Simon C. Body
- Department of Anesthesiology, Perioperative, and Pain Medicine, Brigham and Women's Hospital, Harvard Medical School
- Cristen J. Willer
- Frankel Cardiovascular Center, University of Michigan
- DOI
- https://doi.org/10.1038/ncomms15481
- Journal volume & issue
-
Vol. 8,
no. 1
pp. 1 – 10
Abstract
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.
