PHACTR1 splicing isoforms and eQTLs in atherosclerosis-relevant human cells.
Valérie-Anne Codina-FauteuxMélissa BeaudoinSimon LalondeKen Sin LoGuillaume LettrePublished in: BMC medical genetics (2018)
Our comprehensive transcriptomic profiling of PHACTR1 indicates that this gene encodes six main transcripts. Five of them are expressed in hCA, where atherosclerotic plaques develop. In this tissue, genotypes at rs9349379 are associated with the expression of the intermediate transcripts, but not the immune-specific short transcript. This result suggests that rs9349379 may in part influence CAD by modulating the expression of intermediate PHACTR1 transcripts in endothelial or vascular smooth muscle cells found in hCA.