Benchmarking Alzheimer’s disease prediction: personalised risk assessment using polygenic risk scores across various methodologies and genome-wide studies
2025

Personalized Risk Assessment for Alzheimer's Disease Using Genetic Scores

Sample size: 1341 publication 10 minutes Evidence: moderate

Author Information

Author(s): Eftychia Bellou, Woori Kim, Ganna Leonenko, Feifei Tao, Emily Simmonds, Ying Wu, Niklas Mattsson-Carlgren, Oskar Hansson, Michael W. Nagle, Valentina Escott-Price

Primary Institution: Cardiff University

Hypothesis

Can polygenic risk scores improve the prediction of Alzheimer's disease risk across different methodologies?

Conclusion

The study benchmarks the best strategies for deriving and modeling polygenic risk scores for predicting Alzheimer's disease.

Supporting Evidence

  • The best prediction accuracy was achieved using two predictors: APOE and remaining PRS.
  • Microglial PRS showed comparable accuracy to the whole genome.
  • Discrepancies in risk scores were largely due to the GWAS statistics used.

Takeaway

Researchers are trying to figure out how to better predict who might get Alzheimer's disease by looking at their genes.

Methodology

The study compared prediction accuracy of polygenic risk scores in two cohorts using various modeling approaches and genetic data.

Potential Biases

Potential biases due to sample overlap and differences in GWAS summary statistics.

Limitations

The sample sizes are relatively small and may differ in case and control ascertainment methods.

Participant Demographics

Participants included 223 Alzheimer's disease cases and 345 healthy controls from ADNI123, and 170 Alzheimer's disease cases and 596 healthy controls from BioFINDER.

Statistical Information

P-Value

p<0.001

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1186/s13195-024-01664-9

Want to read the original?

Access the complete publication on the publisher's website

View Original Publication