Active: Bicuspid aortic valve Clear all

GWAS 2026-02-06

Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in Bicuspid Aortic Valve.

Theriault S

Circulation

Bicuspid aortic valve

Replicated

1155663

Participants

N/A

Studies

Details PubMed

GWAS 2022-06-21

Elucidation of the genetic causes of bicuspid aortic valve disease.

Gehlen J, Stundl A et al.

Cardiovasc Res

Aims: The present study aims to characterize the genetic risk architecture of bicuspid aortic valve ...

Bicuspid aortic valve

Replicated

17904

Participants

N/A

Studies

Details PubMed

GWAS 2019-08-07

Defects in the Exocyst-Cilia Machinery Cause Bicuspid Aortic Valve Disease and Aortic Stenosis.

Fulmer D, Toomer K et al.

Circulation

Bicuspid aortic valve (BAV) disease is a congenital defect that affects 0.5% to 1.2% of the populati...

Bicuspid aortic valve

Replicated

4859

Participants

N/A

Studies

Details PubMed

GWAS 2018-03-07

Genome-wide analysis yields new loci associating with aortic valve stenosis.

Helgadottir A, Thorleifsson G et al.

Nat Commun

Aortic valve stenosis (AS) is the most common valvular heart disease, and valve replacement is the o...

Aortic valve stenosis

Replicated

808380

Participants

N/A

Studies

Details PubMed

GWAS 2016-11-25

The genetic component of bicuspid aortic valve and aortic dilation. An exome-wide association study.

Gago-Díaz M, Brion M et al.

J Mol Cell Cardiol

Bicuspid aortic valve is the most common cardiovascular congenital malformation affecting 2% of the ...

Bicuspid aortic valve without aortic dilation

Replicated

3437

Participants

N/A

Studies

Details PubMed

Title

Author

Journal

Disease/Trait

Date

Actions

Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in Bicuspid Aortic Valve.

Theriault S

Circulation

Bicuspid aortic valve

2026-02-06

Elucidation of the genetic causes of bicuspid aortic valve disease.

Gehlen J, Stundl A et al.

Cardiovasc Res

Bicuspid aortic valve

2022-06-21

Defects in the Exocyst-Cilia Machinery Cause Bicuspid Aortic Valve Disease and Aortic Stenosis.

Fulmer D, Toomer K et al.

Circulation

Bicuspid aortic valve

2019-08-07

Genome-wide analysis yields new loci associating with aortic valve stenosis.

Helgadottir A, Thorleifsson G et al.

Nat Commun

Aortic valve stenosis

2018-03-07

The genetic component of bicuspid aortic valve and aortic dilation. An exome-wide association study.

Gago-Díaz M, Brion M et al.

J Mol Cell Cardiol

Bicuspid aortic valve without aortic dilation

2016-11-25