Coronary artery disease (CAD) is a condition characterized by the narrowing or blockage of the arteries that supply blood to the heart. It is a major global health burden and is known to be correlated with genetics, but the details of the genetic contribution remain unclear. In this study, we explored the associations between structural variants (SVs) and single nucleotide polymorphisms (SNPs) identified through previous CAD genome-wide association studies (GWAS). We identified the most relevant associations by ranking them using a proposed composite score, combining effect sizes and p-values. Filtering was applied to keep the most significant associations within a 500kb genomic window, resulting in 968 SNP-SV associations. Cross-referencing with tissue-specific eQTL data from the GTEx Portal indicated 321 SNP-SV associations that impact gene expression in coronary artery tissue. GSEA identified associated pathways involving dopachrome isomerase, phenylpyruvate tautomerase, and
catalytic activity. The results suggest that the SVs make an important contribution to the regulation of CAD-related gene expression and the overall risk of CAD. ... Read more