Article

Decoding causal genes and programs from regulatory variants in aortic valve disease

2026-05-29

Abstract excerpt

Aortic valve disease is common, yet its regulatory mechanisms remain poorly understood. We performed multi-omic profiling of human aortic valve interstitial cells (HAVICs), identifying 11,891 allele-specific chromatin accessibility QTLs (as-caQTLs), 48% novel to this cell type. These variants were enriched in active enhancers, disrupted transcription factor (TF) motifs, particularly AP-1, TEAD and GATA families, a...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e7fc7c2a-caa5-568d-a583-a7343aa3c909
DOI: 10.64898/2026.05.26.727981

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Decoding causal genes and programs from regulatory variants in aortic valve diseaseDOI 10.64898/2026.05.26.727981Read

Enhancer-associated aortic valve stenosis risk locus 1p21.2 alters NFATC2 binding site and promotes fibrogenesisSemantic proximity Read

Integrative single-cell analysis of cardiogenesis identifies developmental trajectories and non-coding mutations in congenital heart diseaseSemantic proximity Read

A transcriptome-wide association study identifies PALMD as a susceptibility gene for calcific aortic valve stenosis.Semantic proximity Read

Multimodal Hypersampling of the adult human heart resolves tissue-specific cell states and disease-associated variantsSemantic proximity Read

Integrative single-cell analysis of cardiogenesis identifies developmental trajectories and non-coding mutations in congenital heart disease.Semantic proximity Read

Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction.Semantic proximity Read

Integrative genomic analyses identify candidate causal genes for calcific aortic valve stenosis involving tissue-specific regulationSemantic proximity Read

Molecular convergence of risk variants for congenital heart defects leveraging a regulatory map of the human fetal heartSemantic proximity Read

Enhancer-targeting CRISPR screens at coronary artery disease loci suggest shared mechanisms of disease riskSemantic proximity Read

Multi-Omics Analysis of Genetic Drivers Linking Aortic Stenosis and Left Ventricular Diastolic Dysfunction in Heart FailureSemantic proximity Read

Characterization of genomic regulation profiles in human mitral valve whole tissue to annotate genetic risk loci for mitral valve prolapseSemantic proximity Read

The epigenomic landscape of single vascular cells reflects developmental origin and identifies disease risk lociSemantic proximity Read