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Hodonsky, Chani J.; Turner, Adam W.; Khan, Mohammad Daud; Barrientos, Nelson B.; Methorst, Ruben; Ma, Lijiang; Lopez, Nicolas G.; Mosquera, Jose Verdezoto; Auguste, Gaëlle; Farber, Emily; Ma, Wei Feng; Wong, Doris; Onengut-Gumuscu, Suna; Kavousi, Maryam; Peyser, Patricia A.; van der Laan, Sander W.; Leeper, Nicholas J.; Kovacic, Jason C.; Björkegren, Johan L.M.; Miller, Clint L.
Cell genomics, 01/2024, Volume: 4, Issue: 1Journal Article
Genome-wide association studies (GWASs) have identified hundreds of risk loci for coronary artery disease (CAD). However, non-European populations are underrepresented in GWASs, and the causal gene-regulatory mechanisms of these risk loci during atherosclerosis remain unclear. We incorporated local ancestry and haplotypes to identify quantitative trait loci for expression (eQTLs) and splicing (sQTLs) in coronary arteries from 138 ancestrally diverse Americans. Of 2,132 eQTL-associated genes (eGenes), 47% were previously unreported in coronary artery; 19% exhibited cell-type-specific expression. Colocalization revealed subgroups of eGenes unique to CAD and blood pressure GWAS. Fine-mapping highlighted additional eGenes, including TBX20 and IL5. We also identified sQTLs for 1,690 genes, among which TOR1AIP1 and ULK3 sQTLs demonstrated the importance of evaluating splicing to accurately identify disease-relevant isoform expression. Our work provides a patient-derived coronary artery eQTL resource and exemplifies the need for diverse study populations and multifaceted approaches to characterize gene regulation in disease processes. Display omitted •Human coronary artery is a relevant tissue for profiling atherosclerosis gene expression•Multifaceted QTL mapping methodology improves discovery in diverse populations•Colocalization and epigenomic fine-mapping prioritize candidate risk variants and genes•Publicly available pipeline is generalizable across phenotypes and study designs Hodonsky et al. perform gene expression profiling and a multifaceted genetic analysis of gene regulation in coronary artery tissues from an ancestrally diverse patient cohort. This new resource provides further insights into the heritable mechanisms of coronary artery disease risk and could serve as a template for multi-ancestry studies of other complex phenotypes.
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