Studying Cardiovascular Disease

Included below are two recent publications where researchers have used data and samples from the 1000 Genomes Project to study cardiovascular disease.

In the first study, scientists used 1000 Genomes Project data to study a gene called NKX2-5. This gene is thought to be involved in heart development, and variation in this gene has been linked to heart disease. The authors investigated five NKX2-5 variants and identified how these variants impact the way in which NKX2-5 interacts with other genes involved in heart development.
In the second study, scientists used 1000 Genomes Project data to investigate inherited risk factors for atrial fibrillation. Atrial fibrillation, or irregular heartbeat, can contribute to heart failure or stroke. The study developed a new way to identify patients with increased risk of atrial fibrillation that could be used to improve stroke prevention efforts in clinical care.

For more information:

Disease-associated non-coding variants alter NKX2-5 DNA-binding affinity  
BBA - Gene Regulatory Mechanisms, 2023 | bbagrm.2023.194906  

Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction
Nature Genetics, 2023 | s41588-022-01284-9

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