Polycystin 1

PKD1gene

A genetic variant in PKD1 influencing coronary artery disease susceptibility in Type 1 diabetes, likely through vascular or renal dysfunction.

Pathway placement

Cascade stepOff-pathway / systemic markers

Confidencelow

RationaleCAD susceptibility in Type 1 diabetes; renal/vascular mechanotransduction.

Druggability

Not assessed (no mapped human gene target).

Type I vs Type II discrimination

ScoresLow-confidence (proxy)

R — rupture / Type-I

C — confounder / Type-II

A — assay feasibility

E — evidence strength

T1DI (composite)

Specificity differential (R−C)-31.8

Confounder panel (Type-II drivers)

No confounder evidence retrieved.

Tier: light (literature co-occurrence proxy — lower confidence). See the discrimination table for all markers.

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