Polygenic risk score analysis of pathologically confirmed Alzheimer disease

Ann Neurol. 2017 Aug;82(2):311-314. doi: 10.1002/ana.24999. Epub 2017 Aug 9.


Previous estimates of the utility of polygenic risk score analysis for the prediction of Alzheimer disease have given area under the curve (AUC) estimates of <80%. However, these have been based on the genetic analysis of clinical case-control series. Here, we apply the same analytic approaches to a pathological case-control series and show a predictive AUC of 84%. We suggest that this analysis has clinical utility and that there is limited room for further improvement using genetic data. Ann Neurol 2017;82:311-314.

MeSH terms

  • Alzheimer Disease / diagnosis*
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / pathology
  • Area Under Curve
  • Genetic Predisposition to Disease / genetics*
  • Genome-Wide Association Study
  • Humans
  • Models, Genetic
  • Multifactorial Inheritance*
  • Polymorphism, Single Nucleotide / genetics
  • Risk Assessment / methods*