학술논문
Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve
Document Type
article
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
Source
Nature Communications, Vol 8, Iss 1, Pp 1-10 (2017)
Subject
Language
English
ISSN
2041-1723
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.