Researchers found that ultra-rare genetic variants play a significant role in the heritability of coronary artery disease (CAD), particularly in individuals of European ancestry. These variants, especially those altering proteins or regulating genes in heart cells, pose higher risks than common variants.
By Dr. Chinta SidharthanReviewed by Benedette Cuffari, M.Sc.Oct 13 2024 In this groundbreaking study, researchers uncover how ultra-rare genetic variants, especially in heart cells, play a critical role in raising the risk of coronary artery disease among individuals of European descent.
What causes CAD? The development of CAD, one of the major causes of mortality worldwide, is largely determined by genetic risk factors. Previous studies conducted on European populations, for example, indicate that the heritability of CAD is about 60%. To avoid bias, any related individuals were excluded from the analysis, and stringent quality control measures were applied to all the samples. A principal component analysis was used to infer genetic ancestry, focusing on data from 22,443 individuals of European ancestry that comprised over 28 million autosomal single nucleotide variants.
Single nucleotide variants were further categorized based on evolutionary constraints determined through phyloP scores, cell-specific regulatory functions, and their predicted impact on proteins. The single nucleotide variants were also annotated based on their biological importance. The study highlighted that cell-specific regulatory mechanisms in the coronary artery, particularly in smooth muscle cells and endothelial cells, were enriched with CAD-associated variants, indicating a critical role for cell-type-specific processes in genetic risk.
Genetic Allele Cell Coronary Heart Disease Frequency Gene Genome Heart Heart Disease Mortality Nucleotide Protein Whole Genome Sequencing
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