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

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
Source :
Nature Communications, Vol 8, Iss 1, Pp 1-10 (2017)
Publication Year :
2017
Publisher :
Nature Portfolio, 2017.

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.

Subjects

Subjects :
Science

Details

Language :
English
ISSN :
20411723
Volume :
8
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Nature Communications
Publication Type :
Academic Journal
Accession number :
edsdoj.746483d8d43040b4bb874c6651724a72
Document Type :
article
Full Text :
https://doi.org/10.1038/ncomms15481