July 12, 2024

Identification of Novel Genes Linked to Coronary Artery Disease

In a significant breakthrough, researchers have discovered previously unidentified genes that are associated with calcium buildup in the coronary arteries, which is known to be a predictor of future heart disease. This discovery opens up new possibilities for prevention and treatment strategies for coronary artery disease.

Coronary artery disease is the leading cause of morbidity and mortality in developed countries. It is primarily caused by the buildup of plaque on the arterial walls, a condition known as atherosclerosis. The presence of calcium in the coronary arteries, referred to as coronary artery calcification (CAC), can be an early indication of coronary artery disease.

Although CAC has a hereditary component, with an estimated heritability of 30% to 40%, only a few genes contributing to this condition have been identified so far. Recognizing this gap in knowledge, researchers from the University of Virginia (UVA) Health conducted a thorough investigation into the genetic factors influencing coronary calcium buildup.

The research team undertook the largest genome-wide association study (GWAS) meta-analysis to date, analyzing data from 26,909 individuals of European ancestry and 8,867 individuals of African ancestry. This extensive study led to the identification of 43 candidate genes for CAC at 11 different locations in the chromosomes. Notably, eight of these locations had not previously been associated with CAC, and five had not been reported in relation to coronary artery disease.

One of the genes discovered, ENPP1, is known to play a role in rare forms of arterial calcification in infants. Additionally, the researchers identified genes involved in the adenosine signaling pathway, which is known to suppress arterial calcification. To validate their findings, the team conducted gene studies in human coronary artery tissues and smooth muscle cells, demonstrating direct effects on calcification and related cellular processes.

Furthermore, the researchers conducted a druggability analysis on the 11 risk loci to explore the potential of targeting these genes clinically. It was discovered that several CAC-associated genes are potential targets for drug or nutrient supplement interactions, including vitamins C and D. This presents new opportunities to study how these compounds could either promote or inhibit CAC.

While further studies are required to determine the best strategies for targeting these genes and their pathways, the researchers believe that their discoveries hold great potential for improved risk prediction and early treatment interventions to prevent the progression of coronary artery disease.

Clint Miller, one of the study’s corresponding authors, highlighted the significance of this interdisciplinary collaboration and the power of meta-analysis in a relatively unexplored area of research. The team is eager to make progress in translating these initial findings into clinical applications and to identify additional genes that could contribute to risk prediction across more diverse populations.


1.Source: Coherent Market Insights, Public sources, Desk research
2.We have leveraged AI tools to mine information and compile it