Methylenetetrahydrofolate Reductase
MTHFRproteinMTHFR 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 non-Type I discrimination
ScoresIndeterminate
R — rupture / Type-I—
C — non-Type-I33
A — assay feasibility68
E — evidence strength22
T1DI (composite)6
Specificity differential (R−C)-18.3
Non-Type-I axis panel
Does this marker also move in each non-Type-I setting? mag 0–3; higher means less Type-I-specific. n/a = no evidence retrieved, which is not the same as no change.
2sepsis / systemic inflammationmag 1
2anemia / acute blood lossn/a
2hypovolemia / dehydrationn/a
2tachyarrhythmian/a
2hypoxemia / respiratory failuren/a
2hypertensive emergencyn/a
2high-demand / peri-operative stressn/a
3sudden cardiac deathn/a
4aPCI-related periproceduraln/a
4bstent thrombosisn/a
4cin-stent restenosismag 1
5CABG-relatedn/a
Coverage: 2/12 axes with evidence
Tier: deep-scored (abstract-extracted) · 5 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)
- Identification of Phosphorylation Associated SNPs for Blood Pressure, Coronary Artery Disease and Stroke from Genome-wide Association Studies.Current molecular medicine · 2019 · PMID 31456518 · doi
- Prothrombotic gene polymorphisms and plasma factors in young North Indian survivors of acute myocardial infarction.Journal of thrombosis and thrombolysis · 2012 · PMID 22535530 · doi
- Prothrombotic genetic risk factors in young survivors of myocardial infarction.Blood · 1999 · PMID 10381497