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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Publicado no:Nat Commun
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5458508/
https://ncbi.nlm.nih.gov/pubmed/28541271
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms15481
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