ArticleBasic research in cardiology2022
Transcriptome-wide association study of coronary artery disease identifies novel susceptibility genes.
Article in Basic research in cardiology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 52 citations in OpenAlex.
- Multiomic integration analysis identifies atherogenic metabolites mediating between novel immune genes and cardiovascular risk.Genome medicine · 2024Pooled it
- Genetics-Informed Mapping Identifies a CRIM1-Associated Endocardial Inflammatory Remodeling State in Acute Myocardial Infarction.Medical science monitor : international medical journal of experimental and clinical research · 2026Article
- Cell type-specific epigenetic regulatory circuitry of coronary artery disease loci.Nature communications · 2026Article
- Review
- Precision medicine and personalized nursing in cardiovascular disease: clinical applications and frontier developments.Frontiers in cardiovascular medicine · 2026Review
- Insights from GWAS, TWAS, and DEG analysis: CDKN2B-AS1, MAP3K4, and P2RX2-encoded P2X2 receptor identified as potential therapeutic targets for ischemic heart disease in Russian adults and long-living individuals.Frontiers in cardiovascular medicine · 2026Article
- Enhancer-targeting CRISPR screens at coronary artery disease loci suggest shared mechanisms of disease risk.medRxiv : the preprint server for health sciences · 2025Article
- An interplay of non-coding RNAs regulatesResearch square · 2025Article
- A macrophage gene-regulatory network linked to clinical severity of coronary artery disease : The STARNET and NGS-PREDICT primary blood macrophage studies.Basic research in cardiology · 2025Article
- Glucagon-like Peptide-2 Acts Partially Through Central GLP-2R and MC4R in Mobilizing Stored Lipids from the Intestine.Nutrients · 2025Article
- A scoping review of statistical methods to investigate colocalization between genetic associations and microRNA expression in osteoarthritis.Osteoarthritis and cartilage open · 2024Article
- Identification of novel proteins for coronary artery disease by integrating GWAS data and human plasma proteomes.Heliyon · 2024Article
- Integrating Multi-Organ Imaging-Derived Phenotypes and Genomic Information for Predicting the Occurrence of Common Diseases.Bioengineering (Basel, Switzerland) · 2024Article
- Harnessing Artificial Intelligence in Multimodal Omics Data Integration: Paving the Path for the Next Frontier in Precision Medicine.Annual review of biomedical data science · 2024Review
- Article
- Susceptibility gene identification and risk evaluation model construction by transcriptome-wide association analysis for salt sensitivity of blood pressure.BMC genomics · 2024Article
- Transcriptomic and spatial dissection of human ex vivo right atrial tissue reveals proinflammatory microvascular changes in ischemic heart disease.Cell reports. Medicine · 2024Article
- Article
- Transcriptome-wide association studies: recent advances in methods, applications and available databases.Communications biology · 2023Review
- On the interpretation of transcriptome-wide association studies.PLoS genetics · 2023Article
Corrections and comments
- Erratum issued
Authors and funding
21 authors at 8 institutions in 5 countries.
Funding
Abstract
The majority of risk loci identified by genome-wide association studies (GWAS) are in non-coding regions, hampering their functional interpretation. Instead, transcriptome-wide association studies (TWAS) identify gene-trait associations, which can be used to prioritize candidate genes in disease-relevant tissue(s). Here, we aimed to systematically identify susceptibility genes for coronary artery disease (CAD) by TWAS. We trained prediction models of nine CAD-relevant tissues using EpiXcan based on two genetics-of-gene-expression panels, the Stockholm-Tartu Atherosclerosis Reverse Network Engineering Task (STARNET) and the Genotype-Tissue Expression (GTEx). Based on these prediction models, we imputed gene expression of respective tissues from individual-level genotype data on 37,997 CAD cases and 42,854 controls for the subsequent gene-trait association analysis. Transcriptome-wide significant association (i.e. P < 3.85e-6) was observed for 114 genes. Of these, 96 resided within previously identified GWAS risk loci and 18 were novel. Stepwise analyses were performed to study their plausibility, biological function, and pathogenicity in CAD, including analyses for colocalization, damaging mutations, pathway enrichment, phenome-wide associations with human data and expression-traits correlations using mouse data. Finally, CRISPR/Cas9-based gene knockdown of two newly identified TWAS genes, RGS19 and KPTN, in a human hepatocyte cell line resulted in reduced secretion of APOB100 and lipids in the cell culture medium. Our CAD TWAS work (i) prioritized candidate causal genes at known GWAS loci, (ii) identified 18 novel genes to be associated with CAD, and iii) suggested potential tissues and pathways of action for these TWAS CAD genes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.