ArticleProceedings of the National Academy of Sciences of the United States of America2022
Leveraging cell-type-specific regulatory networks to interpret genetic variants in abdominal aortic aneurysm.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 16 citations in OpenAlex.
- Contextual AI models for single-cell protein biology.Nature methods · 2024Article
- Contextual AI models for single-cell protein biology.bioRxiv : the preprint server for biology · 2024Article
- Using Genomics to Identify Novel Therapeutic Targets for Aortic Disease.Arteriosclerosis, thrombosis, and vascular biology · 2024Review
- Genetic effects of sequence-conserved enhancer-like elements on human complex traits.Genome biology · 2024Article
- CCN2 deficiency in smooth muscle cells triggers cell reprogramming and aggravates aneurysm development.JCI insight · 2023Article
- Article
- Epigenetic Regulation of Endothelial Cell Lineages During Zebrafish Development-New Insights From Technical Advances.Frontiers in cell and developmental biology · 2022Review
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
Abdominal aortic aneurysm (AAA) is a common degenerative cardiovascular disease whose pathobiology is not clearly understood. The cellular heterogeneity and cell-type-specific gene regulation of vascular cells in human AAA have not been well-characterized. Here, we performed analysis of whole-genome sequencing data in AAA patients versus controls with the aim of detecting disease-associated variants that may affect gene regulation in human aortic smooth muscle cells (AoSMC) and human aortic endothelial cells (HAEC), two cell types of high relevance to AAA disease. To support this analysis, we generated H3K27ac HiChIP data for these cell types and inferred cell-type-specific gene regulatory networks. We observed that AAA-associated variants were most enriched in regulatory regions in AoSMC, compared with HAEC and CD4
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Registered trials
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