ArticleCirculation research2023
Genetic Regulation of SMC Gene Expression and Splicing Predict Causal CAD Genes.
Article in Circulation research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 47 citations in OpenAlex.
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- Cell type-specific epigenetic regulatory circuitry of coronary artery disease loci.Nature communications · 2026Article
- An endothelial RNA splicing atlas catalogs effects of IL-1β and identifies an alternative PROCR isoform with genetic links to pleiotropic vascular disease.American journal of human genetics · 2026Article
- Smooth muscle cell phenotypic modulation during atherosclerosis.Vascular pharmacology · 2026Review
- Integrative functional genomics analysis identifies pleiotropic genes for vascular diseases.Nature communications · 2026Article
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- Mapping atherogenesis mechanisms in smooth muscle cells by targeting genes linked to coronary artery disease.iScience · 2025Article
- Insights, opportunities, and challenges provided by large cell atlases.Genome biology · 2025Review
- Coronary artery disease-associated variants regulate vascular smooth muscle cell gene expression.Nature cardiovascular research · 2025Article
- Reduced blood EPAC1 protein levels as a marker of severe coronary artery disease: the role of hypoxic foam cell-transformed smooth muscle cells.Journal of translational medicine · 2025Article
- Atheroma transcriptomics identifies ARNTL as a smooth muscle cell regulator and with clinical and genetic data improves risk stratification.European heart journal · 2025Article
- A scoping review of statistical methods to investigate colocalization between genetic associations and microRNA expression in osteoarthritis.Osteoarthritis and cartilage open · 2024Article
- Screening of CAD-related secretory genes associated with type II diabetes based on comprehensive bioinformatics analysis and machine learning.BMC cardiovascular disorders · 2024Article
- The role of p130Cas/BCAR1 adaptor protein in the pathogenesis of cardiovascular diseases: A literature review.American heart journal plus : cardiology research and practice · 2024Review
- Translatome profiling reveals Itih4 as a novel smooth muscle cell-specific gene in atherosclerosis.Cardiovascular research · 2024Article
- Network-based prioritization and validation of regulators of vascular smooth muscle cell proliferation in disease.Nature cardiovascular research · 2024Article
- Single-Cell Gene-Regulatory Networks of Advanced Symptomatic Atherosclerosis.Circulation research · 2024Article
- Secreted Protein Profiling of Human Aortic Smooth Muscle Cells Identifies Vascular Disease Associations.Arteriosclerosis, thrombosis, and vascular biology · 2024Article
Corrections and comments
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Authors and funding
20 authors at 7 institutions in 5 countries.
Funding
Abstract
backgroundCoronary artery disease (CAD) is the leading cause of death worldwide. Recent meta-analyses of genome-wide association studies have identified over 175 loci associated with CAD. The majority of these loci are in noncoding regions and are predicted to regulate gene expression. Given that vascular smooth muscle cells (SMCs) play critical roles in the development and progression of CAD, we aimed to identify the subset of the CAD loci associated with the regulation of transcription in distinct SMC phenotypes.
methodsWe measured gene expression in SMCs isolated from the ascending aortas of 151 heart transplant donors of various genetic ancestries in quiescent or proliferative conditions and calculated the association of their expression and splicing with ~6.3 million imputed single-nucleotide polymorphism markers across the genome.
resultsWe identified 4910 expression and 4412 splicing quantitative trait loci (sQTLs) representing regions of the genome associated with transcript abundance and splicing. A total of 3660 expression quantitative trait loci (eQTLs) had not been observed in the publicly available Genotype-Tissue Expression dataset. Further, 29 and 880 eQTLs were SMC-specific and sex-biased, respectively. We made these results available for public query on a user-friendly website. To identify the effector transcript(s) regulated by CAD loci, we used 4 distinct colocalization approaches. We identified 84 eQTL and 164 sQTL that colocalized with CAD loci, highlighting the importance of genetic regulation of mRNA splicing as a molecular mechanism for CAD genetic risk. Notably, 20% and 35% of the eQTLs were unique to quiescent or proliferative SMCs, respectively. One CAD locus colocalized with a sex-specific eQTL (
conclusionsCollectively, our results provide evidence for the molecular mechanisms of genetic susceptibility to CAD in distinct SMC phenotypes.
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