CDKN2B
CDKN2BgeneCDKN2B variants affect vascular cell proliferation and inflammatory signaling, modulating atherosclerotic plaque development and rupture risk.
Pathway placement
Cascade stepPlaque inflammation
Confidencemedium
RationaleTop CAD susceptibility locus at 9p21.3 with arterial wall and vascular inflammation effects.
Also acts inLipid entry/oxidation
Druggability
DruggableNo
Known drugs / candidates0
Small-molecule tractableNo
Antibody tractableNo
EnsemblENSG00000147883
Type I vs Type II discrimination
ScoresLow-confidence (proxy)
R — rupture / Type-I32
C — confounder / Type-II52
A — assay feasibility52
E — evidence strength20
T1DI (composite)4
Specificity differential (R−C)-19.7
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
0.283
Open Targets association (acute_MI)
Literature evidence(8)
- Shared Genetic Liability Between Heart Failure and Myocardial Infarction Revealed by Genome-Wide Cross-Trait Analysis.Journal of cardiovascular pharmacology and therapeutics · 2026 · PMID 42141940 · doi
- Genome- and transcriptome-wide association meta-analysis reveals new insights into genes affecting coronary and peripheral artery disease.PloS one · 2025 · PMID 41252360 · doi
- Integrative Prioritization of Causal Genes for Coronary Artery Disease.Circulation. Genomic and precision medicine · 2021 · PMID 34961328 · doi
- Functional genomics of the CDKN2A/B locus in cardiovascular and metabolic disease: what have we learned from GWASs?Trends in endocrinology and metabolism: TEM · 2015 · PMID 25744911 · doi
- A genome-wide association study of a coronary artery disease risk variant.Journal of human genetics · 2013 · PMID 23364394 · doi
- Commentary on a GWAS: HDAC9 and the risk for ischaemic stroke.BMC medicine · 2012 · PMID 22776031 · doi
- Genome-wide association study of coronary artery disease in the Japanese.European journal of human genetics : EJHG · 2011 · PMID 21971053 · doi
- Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies.Circulation. Cardiovascular genetics · 2011 · PMID 22199011 · doi