rs11330858 - MECOM

Magnitude 2.0 · 1 study on file

Reported associations

• Integrative genomic analyses identify candidate causal genes for calcific aortic valve stenosis involving tissue-specific regulation - Unknown journal (n.d.) · Unknown authors · PubMed 38494474

  ABSTRACT: There is currently no medical therapy to prevent calcific aortic valve stenosis (CAVS). Multi-omics approaches could lead to the identification of novel molecular targets. Here, we perform a genome-wide association study (GWAS) meta-analysis including 14,819 cases among 941,863 participants of European ancestry. We report 32 genomic loci, among which 20 are novel. RNA sequencing of 500 human aortic valves highlights an enrichment in expression regulation at these loci and prioritizes candidate causal genes. Homozygous genotype for a risk variant near TWIST1, a gene involved in endothelial-mesenchymal transition, has a profound impact on aortic valve transcriptomics. We identify five genes outside of GWAS loci by combining a transcriptome-wide association study, colocalization, an

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