Hepatocyte Nuclear Factor 1 Alpha
HNF1AgeneHNF1A variants affect hepatic lipogenesis and glucose homeostasis, modulating systemic metabolic risk factors for atherothrombotic disease.
Pathway placement
Cascade stepOff-pathway / systemic markers
Confidencemedium
RationaleTranscription factor; lipid/glucose metabolism regulator, GWAS locus.
Druggability
DruggableNo
Known drugs / candidates0
Small-molecule tractableNo
Antibody tractableNo
EnsemblENSG00000135100
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
2
GWAS associations
Traits: myocardial infarction
Literature evidence(0)
No direct literature mentions harvested; included via genetic/target evidence.