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Methylenetetrahydrofolate Reductase
Pathway / Off-pathway / systemic markers

Methylenetetrahydrofolate Reductase

MTHFRprotein

MTHFR genetic variation affects homocysteine levels, increasing thrombosis risk and blood pressure.

Pathway placement
Cascade stepOff-pathway / systemic markers
Confidencemedium
RationaleHomocysteine metabolism enzyme; elevated homocysteine is prothrombotic and hypertensive.
Also acts inPlatelet activation, Coagulation / thrombus
Druggability
DruggableYes
Known drugs / candidates0
Small-molecule tractableYes
Antibody tractableNo
EnsemblENSG00000177000

Type I vs Type II discrimination

ScoresIndeterminate
R — rupture / Type-I
—
C — confounder / Type-II
33
A — assay feasibility
68
E — evidence strength
22
T1DI (composite)
6
Specificity differential (R−C)-18
Confounder panel (Type-II drivers)
1sepsis / systemic inflammationmag 1
2anemia / acute blood lossn/a
3hypovolemia / dehydrationn/a
4tachyarrhythmian/a
5hypoxemia / respiratory failuren/a
6hypertensive emergencyn/a
7high-demand / peri-operative stressn/a
Coverage: 1/7 confounders with evidence
Tier: deep-scored (abstract-extracted) · 3 supporting references. 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
Serum or plasma
Collection tube
Serum separator (gold/red-top, SST) · K2/K3-EDTA (lavender-top)
Method / principle
Sandwich immunoassay (ELISA) — research-grade unless a cleared assay exists
Reagent / substrate
Matched anti-target antibody pair (capture + labeled detection)
Platform
ELISA microplate or multiplex (Luminex/MSD)
Turnaround · availability
Send-out / research · Research-grade (no universal clinical assay)

Literature evidence(3)