Valvular & structural heart disease
Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in Bicuspid Aortic Valve
Authors' conclusion
This study supports a significant polygenic contribution to BAV, where the combination of multiple common variants in genes involved in heart morphogenesis disrupts aortic valve development.
Study context
- Population
- Bicuspid aortic valve (BAV)9,631 cases
- Participants
- 65,677 participants
- Outcome
- Genomic loci associated with BAV (GWAS meta-analysis)
Methodological detailstranscriptomic analyses, Mendelian randomization, zebrafish knockdown/knockout, polygenic risk score
- Transcriptomic analyses
- Mendelian randomization
- Zebrafish knockdown/knockout
- Polygenic risk score
Pooled result
As reported in the abstract
Genomic loci identified
36
Loci not described previously
32
Further pooled results
Polygenic risk score and phenotypes in UK Biobank (n=355 618)
- Significantly associated with thoracic aortic aneurysm and AF
Original publication
Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in Bicuspid Aortic Valve. Circulation. Published 6 February 2026. doi:10.
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