Evidence map›Paper›PMID 39762974›Full record

ArticleAlzheimer's research & therapy2025

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

Eftychia Bellou, Woori Kim, Ganna Leonenko, Feifei Tao, Emily Simmonds, Ying Wu, Niklas Mattsson-Carlgren, Oskar Hansson, Michael W Nagle, Valentina Escott-Price and 1 more

Abstract read
In one paragraph

Article in Alzheimer's research & therapy, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

11 citing papers in PubMed.

  1. Article
  2. Review
  3. Polygenic risk scores in neurological disorders: restless legs syndrome as a translational model.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026
    Article
  4. Article
  5. Article
  6. Article
  7. Genetic risk in Alzheimer's disease.NPJ systems biology and applications · 2026
    Review
  8. Prediction of Episodic Memory With Multiomics Scores.Biological psychiatry global open science · 2026
    Article
  9. Review
  10. Article
  11. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Eftychia Bellou *UK Dementia Research Institute at Cardiff, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, CF24 4HQ, UK.
Woori Kim *Eisai Inc, Cambridge, MA, 02140, USA.
Ganna Leonenko *UK Dementia Research Institute at Cardiff, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, CF24 4HQ, UK.
Feifei TaoEisai Inc, Cambridge, MA, 02140, USA.
Emily SimmondsUK Dementia Research Institute at Cardiff, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, CF24 4HQ, UK.
Ying WuEisai Inc, Cambridge, MA, 02140, USA.
Niklas Mattsson-CarlgrenClinical Memory Research Unit, Department of Clinical Sciences Malmö, Faculty of Medicine, Lund University, Lund, 221 00, Sweden.
Oskar HanssonClinical Memory Research Unit, Department of Clinical Sciences Malmö, Faculty of Medicine, Lund University, Lund, 221 00, Sweden.
Michael W NagleEisai Inc, Cambridge, MA, 02140, USA.
Valentina Escott-PriceUK Dementia Research Institute at Cardiff, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, CF24 4HQ, UK. escottpricev@cardiff.ac.uk.
Alzheimer’s Disease Neuroimaging Initiative

Funding

Medical Research Council UKDRI-3003
6 · The paper itself

Abstract

backgroundThe success of selecting high risk or early-stage Alzheimer's disease individuals for the delivery of clinical trials depends on the design and the appropriate recruitment of participants. Polygenic risk scores (PRS) show potential for identifying individuals at risk for Alzheimer's disease (AD). Our study comprehensively examines AD PRS utility using various methods and models.

methodsWe compared the PRS prediction accuracy in ADNI (N = 568) and BioFINDER (N = 766) cohorts using five disease risk modelling approaches, three PRS derivation methods, two AD genome-wide association study (GWAS) statistics and two sets of SNPs: the whole genome and microglia-selective regions only.

resultsThe best prediction accuracy was achieved when modelling genetic risk by using two predictors: APOE and remaining PRS (AUC = 0.72-0.76). Microglial PRS showed comparable accuracy to the whole genome (AUC = 0.71-0.74). The individuals' risk scores differed substantially, with the largest discrepancies (up to 70%) attributable to the GWAS statistics used.

conclusionsOur work benchmarks the best PRS derivation and modelling strategies for AD genetic prediction.

Indexed as

Alzheimer DiseaseBenchmarkingGenetic Predisposition to DiseaseGenome-Wide Association StudyMultifactorial InheritancePolymorphism, Single NucleotideAgedAged, 80 and overApolipoproteins ECohort StudiesFemaleGenetic Risk ScoreHumansMaleRisk AssessmentApolipoproteins EAlzheimer’s diseasePolygenic risk scoreRisk prediction

Identifiers

PMID39762974
PMCPMC11702271

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LicenceCC BY
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.