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Article

Molecular mechanisms of coronary artery disease risk at the PDGFD locus.

Nature communications - 15 Feb 2023

Kim Hyun-Jung, Cheng Paul, Travisano Stanislao, Weldy Chad, Monteiro João P, Kundu Ramendra, Nguyen Trieu, Sharma Disha, Shi Huitong, Lin Yi, Liu Boxiang, Haldar Saptarsi, Jackson Simon, Quertermous Thomas

Abstract excerpt

Genome wide association studies for coronary artery disease (CAD) have identified a risk locus at 11q22.3. Here, we verify with mechanistic studies that rs2019090 and PDGFD represent the functional variant and gene at this locus. Further, FOXC1/C2 transcription factor binding at rs2019090 is shown to promote PDGFD transcription through the CAD promoting allele. With single cell transcriptomic and histology...

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Source

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Identifiers

PMID: 36792607
DOI: 10.1038/s41467-023-36518-9
PMCID: PMC9932166

Genes

PDGFD
CAD
C2
FOXC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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