Betaine-homocysteine methyltransferase
BHMTgeneBHMT is a cardiometabolic risk gene encoding homocysteine metabolism enzyme; elevated homocysteine is a systemic CAD risk factor outside the atherothrombotic cascade.
Pathway placement
Cascade stepOff-pathway / systemic markers
Confidencemedium
RationaleHomocysteine metabolism; systemic cardiometabolic risk, not direct atherothrombosis.
Druggability
Not assessed (no mapped human gene target).
Type I vs Type II discrimination
ScoresLow-confidence (proxy)
R — rupture / Type-I33
C — confounder / Type-II35
A — assay feasibility52
E — evidence strength16
T1DI (composite)4
Specificity differential (R−C)-1.4
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
Literature evidence(1)
- Genome-wide association study of selenium concentrations.Human molecular genetics · 2014 · PMID 25343990 · doi