Genetic architecture of plasma pTau217 and related biomarkers in Alzheimer's disease via genome-wide association studies - PubMed
3 days ago
- #Alzheimer's disease
- #GWAS
- #plasma biomarkers
- Study aimed to define genetic architecture and regulatory mechanisms of Alzheimer's disease (AD)-related plasma biomarkers in an East Asian population.
- GWAS performed on plasma biomarkers (pTau217, pTau181, NfL, GFAP) in 1,972 individuals from the K-ROAD cohort.
- Identified genome-wide significant loci for biomarkers, including DACT1-DAAM1 (pTau217), KCNJ3 (pTau181), KLHDC4 (NfL), SLC10A7 (GFAP), and PPP4R2 (composite score).
- Strong associations at the apolipoprotein E locus observed across biomarkers.
- Integrative analyses implicated DACT1 as a key regulatory mediator of pTau217, particularly in oligodendrocytes.
- Findings link ancestry-relevant AD biomarker genetics to brain regulatory mechanisms and support integrative causal analyses.