In a recently published study, researchers from the Victor Chang Cardiac Research Institute, the Icahn School of Medicine at New York’s Mount Sinai have identified the most critical genes that cause coronary heart disease and trigger heart attacks.
The researchers aimed to develop a comprehensive integrative genomics analysis for coronary artery disease (CAD) and provide a list of causal CAD genes. They used informatic approaches to integrate summary statistics from other genome-wide association studies.
The study included 600 patients who had coronary artery disease and another 150 without the disease. All underwent open chest surgery for coronary heart artery bypass surgery or other medically indicated reasons.
The team identified a total of 162 unique candidate causal CAD genes, which exerted their effect from between one and up to 7 disease-relevant tissues/cell types, including the arterial wall, blood, liver, skeletal muscle, adipose, foam cells, and macrophages.
After their causal effect was ranked, the more important and top candidate causal CAD genes were CDKN2B and PHACTR1, both exerting their causal effect in the arterial walls.
Even though these genes were identified as the most important for causing CAD, scientists still have little idea of how they work, and more studies are needed in order to understand the mechanism by which they act.
Ke Hao, et al. Integrative Prioritization of Causal Genes for Coronary Artery Disease. Circulation. 2022. https://doi.org/10.1161/CIRCGEN.121.003365