rs117077380 - POU6F2
Magnitude 2.2 · 1 study on file
Reported associations
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Genetic architecture of plasma pTau217 and related biomarkers in Alzheimer's disease via genome‐wide association studies - Unknown journal (n.d.) · Unknown authors · PubMed 41804841
ABSTRACT: Abstract INTRODUCTION We aimed to define the genetic architecture and regulatory mechanisms of Alzheimer's disease (AD) ‐related plasma biomarkers in an East Asian population. METHODS Genome‐wide association studies (GWAS) of plasma phosphorylated tau at threonine 217 (pTau217), pTau181, neurofilament light chain (NfL), and glial fibrillary acidic protein (GFAP) were performed in 1,972 individuals from the Korea‐Registries to Overcome and Accelerate Dementia Research (K‐ROAD) cohort. Results were integrated with Korean single‐nucleus transcriptomics, AD‐relevant brain quantitative trait loci resources, and summary‐based Mendelian randomization (SMR) and colocalization analyses. RESULTS Genome‐wide significant loci were identified for all biomarkers, including DACT
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Bloodwork
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Plasma p-tau181 levels Moderate
This SNP is associated with increased plasma p-tau181, a biomarker of neurodegeneration risk.
Periodic measurement to track neurodegeneration biomarker levels
Discuss with your doctor
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Cognitive decline risk and monitoring strategy Moderate
Elevated plasma p-tau181 is a biomarker associated with neurodegeneration risk, warranting clinical discussion.