Comparison of different polygenic scores for disease stage and biomarkers in Alzheimer’s disease


  • Polygenic scores were associated with clinical diagnosis, cerebrospinal fluid (CSF) tau levels, and gray matter decline after adjustment for the apolipoprotein E gene (APOE) locus. This study identified few differences in the associations between polygenic risk scores (PRS) and polygenic hazard scores (PHS) and their association with disease stage or biomarkers.

Why this matters

    Beyond APOE ε4, most individual genetic variants have little diagnostic and prognostic value in Alzheimer’s disease. Polygenic risk scores – those that collate disease risk across the genome into a single score – could be predictive for clinical diagnosis, pathology, and biomarker evaluations.