ArticleScientific reports2017
Whole Exome Sequencing to Identify Genetic Variants Associated with Raised Atherosclerotic Lesions in Young Persons.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 19 citations in OpenAlex.
- Transcriptome-wide association study reveals novel susceptibility genes for coronary atherosclerosis.Frontiers in cardiovascular medicine · 2023Article
- Genome Editing in Dyslipidemia and Atherosclerosis.Advances in experimental medicine and biology · 2023Review
- Single-cell profiling of vascular endothelial cells reveals progressive organ-specific vulnerabilities during obesity.Nature metabolism · 2022Article
- Techniques for Profiling the Cellular Immune Response and Their Implications for Interventional Oncology.Cancers · 2022Review
- Integration of Multiple-Omics Data to Analyze the Population-Specific Differences for Coronary Artery Disease.Computational and mathematical methods in medicine · 2021Article
- A Preliminary Study of the Association between SOX17 Gene Variants and Intracranial Aneurysms Using Exome Sequencing.Journal of Korean Neurosurgical Society · 2020Article
- NBEAL1 controls SREBP2 processing and cholesterol metabolism and is a susceptibility locus for coronary artery disease.Scientific reports · 2020Article
- Genomic profiling of human vascular cells identifies TWIST1 as a causal gene for common vascular diseases.PLoS genetics · 2020Article
- Article
- Advancing Personalized Medicine Through the Application of Whole Exome Sequencing and Big Data Analytics.Frontiers in genetics · 2019Review
Corrections and comments
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Authors and funding
12 authors at 6 institutions in 1 country.
Funding
Abstract
We investigated the influence of genetic variants on atherosclerosis using whole exome sequencing in cases and controls from the autopsy study "Pathobiological Determinants of Atherosclerosis in Youth (PDAY)". We identified a PDAY case group with the highest total amounts of raised lesions (n = 359) for comparisons with a control group with no detectable raised lesions (n = 626). In addition to the standard exome capture, we included genome-wide proximal promoter regions that contain sequences that regulate gene expression. Our statistical analyses included single variant analysis for common variants (MAF > 0.01) and rare variant analysis for low frequency and rare variants (MAF < 0.05). In addition, we investigated known CAD genes previously identified by meta-analysis of GWAS studies. We did not identify individual common variants that reached exome-wide significance using single variant analysis. In analysis limited to 60 CAD genes, we detected strong associations with COL4A2/COL4A1 that also previously showed associations with myocardial infarction and arterial stiffness, as well as coronary artery calcification. Likewise, rare variant analysis did not identify genes that reached exome-wide significance. Among the 60 CAD genes, the strongest association was with NBEAL1 that was also identified in gene-based analysis of whole exome sequencing for early onset myocardial infarction.
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Registered trials
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