COL4A1
COL4A1geneCOL4A1 maintains plaque stability through collagen IV production and supports smooth-muscle-cell survival; its remodeling marks post-MI fibrosis.
Pathway placement
Cascade stepFibrous-cap degradation & rupture
Confidencehigh
RationaleCOL4A1 encodes collagen IV, a basement-membrane anchor stabilizing plaque structure and endothelial barrier.
Also acts inPlatelet activation
Druggability
DruggableYes
Known drugs / candidates2
Small-molecule tractableNo
Antibody tractableYes
EnsemblENSG00000187498
Type I vs Type II discrimination
ScoresLow-confidence (proxy)
R — rupture / Type-I45
C — confounder / Type-II53
A — assay feasibility52
E — evidence strength22
T1DI (composite)5
Specificity differential (R−C)-8.3
Confounder panel (Type-II drivers)
No confounder evidence retrieved.
Tier: light (literature co-occurrence proxy — lower confidence). See the discrimination table for all markers.
Assay & specimen
Class-level default (no specific cleared assay)— generic method inferred from analyte class; confirm against a specific product insert before use.
Specimen
Whole blood — gene is not a circulating analyte; measure protein product or genotype
Collection tube
K2-EDTA whole blood (lavender-top)
Method / principle
SNP genotyping / sequencing; or immunoassay of encoded protein
Reagent / substrate
Allele-specific primers/probes (TaqMan) or NGS panel; or antibody for protein
Platform
qPCR / NGS / array
Turnaround · availability
Send-out · Genotyping widely available; protein assay variable
Human genetic evidence
0.514
Open Targets association (myocardial_infarction)
5
GWAS associations
Traits: myocardial infarction
Literature evidence(2)
- Persistent transcriptional changes in cardiac adaptive immune cells following myocardial infarction: New evidence from the re-analysis of publicly available single cell and nuclei RNA-sequencing data sets.Journal of molecular and cellular cardiology · 2024 · PMID 38734060 · doi
- Coronary-Heart-Disease-Associated Genetic Variant at the COL4A1/COL4A2 Locus Affects COL4A1/COL4A2 Expression, Vascular Cell Survival, Atherosclerotic Plaque Stability and Risk of Myocardial Infarction.PLoS genetics · 2016 · PMID 27389912 · doi