GWAS of composite biomarker score

Exploratory Score: 0.900 Price: $0.50 Alzheimer's disease human patients - East Asian cohort (K-ROAD) Status: proposed

What This Experiment Tests

Exploratory experiment designed to discover new patterns targeting PPP4R2, APOE in human patients - East Asian cohort (K-ROAD). Primary outcome: composite biomarker score

Description

Genome-wide association study of a composite score combining multiple AD-related plasma biomarkers (pTau217, pTau181, NfL, and GFAP) to identify shared genetic factors across these biomarkers. This approach aims to capture common biological pathways underlying multiple aspects of AD pathophysiology. The study identified genome-wide significant associations at the PPP4R2 locus.

TARGET GENE

PPP4R2, APOE

MODEL SYSTEM

human patients - East Asian cohort (K-ROAD)

ESTIMATED COST

TIMELINE

0 months

PATHWAY

protein phosphatase signaling, shared AD pathophysiology

SOURCE

extracted_from_pmid_41804841

PRIMARY OUTCOME

composite biomarker score

Scoring Dimensions

📖 Wiki Pages

apoe-genotype-guided-preventiontherapeutic ApoE (Apolipoprotein E)protein APOE Lipid Metabolism Pathway in Alzheimer's Diseamechanism APOE Lipid Dysregulation Causal Chain in ADmechanism APOE contributes to Alzheimer's disease by regulathypothesis APOE contributes to Alzheimer's disease by regulathypothesis APOE — Apolipoprotein Egene APOE Genotyping for Neurodegenerative Disease Riskdiagnostic APOE-Expressing Astrocytescell GFAP Proteinprotein GFAP (Glial Fibrillary Acidic Protein)protein GWAS Findings Hub: Alzheimer's and Parkinson's Dismechanism GWAS Findings Hubmechanism GFAP-Guided Astrocyte Modulation Therapyidea GFAP (Glial Fibrillary Acidic Protein Gene)gene

Protocol

Creation of composite score from multiple biomarkers, genome-wide association analysis using same genotyping and QC procedures

Expected Outcomes

Identification of genetic loci with pleiotropic effects across multiple AD biomarkers

Success Criteria

genome-wide significance (p < 5×10^-8)

Related Hypotheses (0)

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