ArticleEuropean heart journal open2022
Intersecting single-cell transcriptomics and genome-wide association studies identifies crucial cell populations and candidate genes for atherosclerosis.
Article in European heart journal open, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 2 of them syntheses that pooled it.
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Who cites it
48 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Integrative single-cell meta-analysis reveals disease-relevant vascular cell states and markers in human atherosclerosis.Cell reports · 2023Pooled it
- Multi-ancestry genome-wide study identifies effector genes and druggable pathways for coronary artery calcification.Nature genetics · 2023Pooled it
- Cell-Surface Signatures and Targets of Modulated Vascular Smooth Muscle Cells in Atherosclerosis: From State Identification to Precision Intervention.Journal of cardiovascular development and disease · 2026Review
- Cardiovascular Genetic Epidemiology in the Genome-Wide Era: From Association Discovery to Mechanistic Dissection and Clinical Translation.Cardiovascular drugs and therapy · 2026Review
- Multimodal atlas of human atherosclerosis links granular vascular cell states to coronary artery disease risk.medRxiv : the preprint server for health sciences · 2026Article
- Female-Biased VSMC GRNs Predict MYH9 as Regulator of Fibrous Plaque Phenotype.Circulation research · 2026Article
- Genetically determined ancestry associates with morphological and molecular carotid plaque features.Atherosclerosis · 2026Article
- Elevated Asporin expression in human atherosclerotic plaques promotes their stability and reduces the risk for cardiovascular events.Cardiovascular research · 2026Article
- Intracellular Osteopontin of Macrophages Promotes Carotid Plaques Formation by Inducing Foam Cells and Releasing Proinflammatory Cytokines.Journal of the American Heart Association · 2026Article
- Atherosclerotic Fibrous Plaques in Women Present ECM Remodeling Linked to TGF-β.Circulation research · 2026Article
- Multi-omics data integration from patients with carotid stenosis illuminates key molecular signatures of atherosclerotic instability.Genome medicine · 2026Article
- Plasma levels of soluble Flt-1 and Tie-2 correlate with neovascularization in human carotid atherosclerotic plaques - a pilot study.Frontiers in immunology · 2026Article
- Single-cell transcriptomic analysis identifies vascular smooth muscle cell transcriptional programs associated with human carotid plaque remodeling.Frontiers in molecular biosciences · 2026Article
- Spatial architecture of atherosclerotic plaques: coordinating immune responses through mechanotransduction and vesicular trafficking.Frontiers in cell and developmental biology · 2026Review
- Disturbed flow induces reprogramming of endothelial cells to immune-like and foam cells under hypercholesterolaemia during atherogenesis.Cardiovascular research · 2025Article
- Endothelial Cell Genetics in Carotid Artery Atherosclerosis and Intracranial Atherosclerosis: A Systematic Review.Stroke (Hoboken, N.J.) · 2025Review
- LIGHT/TNFSF14 Levels in Carotid Plaques Are Associated With Symptomatic Cerebrovascular Disease.Journal of stroke · 2025Article
- Proteomic profiling reveals a higher presence of glycolytic enzymes in human atherosclerotic lesions with unfavourable histological characteristics.Cardiovascular research · 2025Article
- Ox-LDL induces a non-inflammatory response enriched for coronary artery disease risk in human endothelial cells.Scientific reports · 2025Article
- Single-cell RNA-seq analysis of mouse carotid artery under disturbed flow and human carotid plaques identifies key cell populations in atherosclerosis development.Scientific reports · 2025Article
Corrections and comments
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Authors and funding
23 authors.
Funding
Abstract
aimsGenome-wide association studies (GWASs) have discovered hundreds of common genetic variants for atherosclerotic disease and cardiovascular risk factors. The translation of susceptibility loci into biological mechanisms and targets for drug discovery remains challenging. Intersecting genetic and gene expression data has led to the identification of candidate genes. However, previously studied tissues are often non-diseased and heterogeneous in cell composition, hindering accurate candidate prioritization. Therefore, we analysed single-cell transcriptomics from atherosclerotic plaques for cell-type-specific expression to identify atherosclerosis-associated candidate gene-cell pairs. METHODS AND
resultsWe applied gene-based analyses using GWAS summary statistics from 46 atherosclerotic and cardiovascular disease, risk factors, and other traits. We then intersected these candidates with single-cell RNA sequencing (scRNA-seq) data to identify genes specific for individual cell (sub)populations in atherosclerotic plaques. The coronary artery disease (CAD) loci demonstrated a prominent signal in plaque smooth muscle cells (SMCs) (
conclusionWe discovered novel and known gene-cell pairs pointing to new biological mechanisms of atherosclerotic disease. We highlight that loci associated with CAD reveal prominent association levels in mainly plaque SMC and EC populations. We present an intuitive single-cell transcriptomics-driven workflow rooted in human large-scale genetic studies to identify putative candidate genes and affected cells associated with cardiovascular traits. Collectively, our workflow allows for the identification of cell-specific targets relevant for atherosclerosis and can be universally applied to other complex genetic diseases and traits.
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