LIPA , a risk locus for coronary artery disease: decoding the variant-to-function relationship
Authors' conclusion
The work establishes a direct causal link between LIPA-risk alleles and increased monocyte/macrophage LIPA that exacerbates atherosclerosis, bridging human functional genomic evidence to the mechanistic understanding of coronary artery disease.
Study context
- Population
- LIPA CAD risk locus; human monocytes/macrophages and myeloid-specific Lipa overexpression Ldlr-/- mice
Main finding
As reported in the abstract
- CAD-risk alleles in the LIPA locus increase LIPA expression and enzyme activity specifically in monocytes/macrophages by enhancing PU.1 binding to an intronic enhancer that interacts with the LIPA promoter
- Myeloid-specific Lipa overexpression in Ldlr-/- mice on western diet: larger atherosclerotic lesions
- Altered macrophage function: increased lesional macrophages derived from circulating monocytes, reduced neutral lipid content, up-regulation of integrin and extracellular matrix pathway genes
Original publication
LIPA , a risk locus for coronary artery disease: decoding the variant-to-function relationship. Eur Heart J. Published 19 August 2025. doi:10.
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