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

doi:10.1038/ncomms15481

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Article

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

Nature communications - 25 May 2017

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

Abstract excerpt

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. We identify association with a noncoding variant 151 kb from the gene encoding the cardiac-specific transcription...

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Identifiers

PMID: 28541271
DOI: 10.1038/ncomms15481
PMCID: PMC5458508

Genes

GATA4

Variants

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