The Role of Endothelial Cells in Atherosclerosis: Insights from Genetic Association Studies.

Am J Pathol

Cardiovascular Disease Initiative, The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts; Divisions of Genetics and Cardiovascular Medicine, Brigham & Women's Hospital, Boston, Massachusetts. Electronic address:

Published: April 2024


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Article Abstract

Endothelial cells (ECs) mediate several biological functions that are relevant to atherosclerosis and coronary artery disease (CAD), regulating an array of vital processes including vascular tone, wound healing, reactive oxygen species, shear stress response, and inflammation. Although which of these functions is linked causally with CAD development and/or progression is not yet known, genome-wide association studies have implicated more than 400 loci associated with CAD risk, among which several have shown EC-relevant functions. Given the arduous process of mechanistically interrogating single loci to CAD, high-throughput variant characterization methods, including pooled Clustered Regularly Interspaced Short Palindromic Repeats screens, offer exciting potential to rapidly accelerate the discovery of bona fide EC-relevant genetic loci. These discoveries in turn will broaden the therapeutic avenues for CAD beyond lipid lowering and behavioral risk modification to include EC-centric modalities of risk prevention and treatment.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10988759PMC
http://dx.doi.org/10.1016/j.ajpath.2023.09.012DOI Listing

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