Evidence map›Paper›PMID 32250305›Full record

SynthesisJournal of Alzheimer's disease : JAD2020

From Polygenic Scores to Precision Medicine in Alzheimer's Disease: A Systematic Review.

Judith R Harrison, Sumit Mistry, Natalie Muskett, Valentina Escott-Price

Open access · hybridAbstract readSystematic Review
In one paragraph

Synthesis in Journal of Alzheimer's disease : JAD, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
35citing papers in PubMed, 1 pooled it
10.1field-weighted citation impact, top 1% of its field
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

35 citing papers in PubMed, 1 synthesis or guideline pooled it, 73 citations in OpenAlex.

  1. Pooled it
  2. Trial
  3. Article
  4. Review
  5. Article
  6. Polygenic score integrating neurodegenerative and vascular risk informs dementia risk stratification.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Review
  15. Article
  16. Article
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  18. Article
  19. Personalising Alzheimer's Disease progression using brain atrophy markers.medRxiv : the preprint server for health sciences · 2023
    Article
  20. Article
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

4 authors at 3 institutions in 1 country.

Judith R HarrisonCardiff University Brain Research Imaging Centre (CUBRIC), Cardiff, UK.
Sumit MistryMRC Centre for Neuropsychiatric Genetics and Genomics, Hadyn Ellis Building, Cardiff University, Cardiff, UK.
Natalie MuskettCardiff University Medical School, University Hospital of Wales, Cardiff, UK.
Valentina Escott-PriceDementia Research Institute & the MRC Centre for Neuropsychiatric Genetics and Genomics, Hadyn Ellis Building, Cardiff University, Cardiff, UK.
Cardiff University · GBUK Dementia Research Institute · GBUniversity Hospital of Wales · GB

Funding

Medical Research Council G0801418Medical Research Council MR/L010305Medical Research Council MR/L010305/1Medical Research Council MR/L023784/2Medical Research Council MR/P005748/1Medical Research Council MR/T04604X/1Wellcome Trust
6 · The paper itself

Abstract

backgroundLate-onset Alzheimer's disease (AD) is highly heritable. The effect of many common genetic variants, single nucleotide polymorphisms (SNPs), confer risk. Variants are clustered in areas of biology, notably immunity and inflammation, cholesterol metabolism, endocytosis, and ubiquitination. Polygenic scores (PRS), which weight the sum of an individual's risk alleles, have been used to draw inferences about the pathological processes underpinning AD.

objectiveThis paper aims to systematically review how AD PRS are being used to study a range of outcomes and phenotypes related to neurodegeneration.

methodsWe searched the literature from July 2008-July 2018 following PRISMA guidelines.

results57 studies met criteria. The AD PRS can distinguish AD cases from controls. The ability of AD PRS to predict conversion from mild cognitive impairment (MCI) to AD was less clear. There was strong evidence of association between AD PRS and cognitive impairment. AD PRS were correlated with a number of biological phenotypes associated with AD pathology, such as neuroimaging changes and amyloid and tau measures. Pathway-specific polygenic scores were also associated with AD-related biologically relevant phenotypes.

conclusionPRS can predict AD effectively and are associated with cognitive impairment. There is also evidence of association between AD PRS and other phenotypes relevant to neurodegeneration. The associations between pathway specific polygenic scores and phenotypic changes may allow us to define the biology of the disease in individuals and indicate who may benefit from specific treatments. Longitudinal cohort studies are required to test the ability of PGS to delineate pathway-specific disease activity.

Indexed as

Precision MedicineAlzheimer DiseaseGenetic Predisposition to DiseaseGenetic TestingHumansMultifactorial InheritanceallelesAlzheimer’s diseaseamyloid-beta peptidescognitive dysfunctiongenome-wide association studymultifactorial inheritanceneuroimagingphenotypeprecision medicinesingle nucleotide polymorphism

Identifiers

PMID32250305
PMCPMC7242840
OpenAlexW3010794325

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.