Key result
PHACTR1 SNP rs9349379 reduces endothelial expression ~35% via altered MEF2 binding, linking it to CAD/MI risk.
Population
Human coronary arteries and endothelial cells
Comparison
CRISPR/Cas9 deletion of myocyte enhancer… vs Wild-type endothelial cells; unstimulated cells
Design
Preclinical
Authors
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PHACTR1 locus variants may refine CAD genetic risk scores; leaves open causal gene and downstream mechanisms.
The CAD/MI-associated SNP rs9349379 regulates PHACTR1 expression in the vascular endothelium via MEF2 binding, providing a mechanistic link for this genetic risk locus.
Beaudoin et al. (2015) studied Coronary artery disease (CAD) and myocardial infarction (MI). Intronic SNP (rs9349379) in PHACTR1 was evaluated on PHACTR1 expression levels and myocyte enhancer factor-2 binding. The intronic SNP rs9349379 in PHACTR1 alters myocyte enhancer factor-2 binding, reducing PHACTR1 expression by 35% in heterozygous endothelial cells, linking the locus to CAD/MI risk.
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