Included below are two recent publications in which researchers have used data from the 1000 Genomes Project to study rare inherited risk factors for heart disease.
In the first study, researchers used 1000 Genomes Project data to investigate coronary artery disease (CAD), a common heart disease where blood flow to the heart is reduced or blocked, often due to a buildup of cholesterol. This study used a large group of over 20,000 people to search for new genetic risk factors for CAD. The researchers found that very rare genetic changes made up half of the genetic risk for CAD and highlighted their importance in understanding this disease.
In the second study, researchers used 1000 Genomes Project data to study cardiomyopathy, a serious heart condition that can lead to heart failure and sudden death, especially in children. While some inherited risk factors are known, the causes remain unknown in over half of patients. The researchers studied 1,200 cardiomyopathy patients and found that rare, repetitive DNA regions, called tandem repeats, were more common in cardiomyopathy patients. Overall, these rare genetic changes appear to contribute to about 4% of the risk for this disease.
For more information:
Rare variant contribution to the heritability of coronary artery disease
Nature Communications, 2024 | https://doi.org/10.1038/s41467-024-52939-6
Genome-wide enhancer-associated tandem repeats are expanded in cardiomyopathy
eBioMedicine, 2024 | https://doi.org/10.1016/j.ebiom.2024.105027
