COL4A2
COL4A2geneCOL4A2 variants confer coronary artery disease susceptibility via effects on collagen IV-mediated plaque stabilization and fibrous-cap integrity.
Pathway placement
Cascade stepFibrous-cap degradation & rupture
Confidencehigh
RationaleCOL4A2 is a CHD risk variant affecting basement-membrane integrity and plaque stability.
Also acts inLipid entry/oxidation
Druggability
DruggableYes
Known drugs / candidates2
Small-molecule tractableNo
Antibody tractableYes
EnsemblENSG00000134871
Type I vs Type II discrimination
ScoresLow-confidence (proxy)
R — rupture / Type-I30
C — confounder / Type-II48
A — assay feasibility52
E — evidence strength19
T1DI (composite)4
Specificity differential (R−C)-17.6
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
0.489
Open Targets association (myocardial_infarction)
8
GWAS associations
Traits: myocardial infarction
Literature evidence(2)
- Novel risk genes identified in a genome-wide association study for coronary artery disease in patients with type 1 diabetes.Cardiovascular diabetology · 2018 · PMID 29695241 · 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