Valvular & structural heart diseaseMeta-analysis
Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in Bicuspid Aortic Valve
- Genome-wide association study meta-analysis
- transcriptomic analyses
- Mendelian randomization
- zebrafish knockdown/knockout
- polygenic risk score
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
Pooled result
As reported in the abstract
Genomic loci associated with BAV (GWAS meta-analysis)
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:10.1161/circulationaha.125.074752
Summarised from the published abstract; every number is checked against it