Evidence map›Paper›PMID 32445791›Full record

ReviewNeurobiology of disease2020

Polygenic risk and pleiotropy in neurodegenerative diseases.

Eftychia Bellou, Joshua Stevenson-Hoare, Valentina Escott-Price

Abstract readReview
In one paragraph

Review in Neurobiology of disease, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
37citing papers in PubMed, 2 pooled it
–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

37 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
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  4. Review
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  8. Genetic and functional evidence implicates amedRxiv : the preprint server for health sciences · 2025
    Article
  9. Review
  10. Article
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  12. Review
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  16. Dementias Platform UK: Bringing genetics into life.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024
    Article
  17. Article
  18. Exo Supportive Devices: Summary of Technical Aspects.Bioengineering (Basel, Switzerland) · 2023
    Review
  19. Review
  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

3 authors.

Eftychia BellouDementia Research Institute, Cardiff University, UK.
Joshua Stevenson-HoareDementia Research Institute, Cardiff University, UK.
Valentina Escott-PriceDementia Research Institute, Cardiff University, UK. Electronic address: escottpricev@cardiff.ac.uk.

Funding

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

Abstract

In this paper we explore the phenomenon of pleiotropy in neurodegenerative diseases, focusing on Alzheimer's disease (AD). We summarize the various techniques developed to investigate pleiotropy among traits, elaborating in the polygenic risk scores (PRS) analysis. PRS was designed to assess a cumulative effect of a large number of SNPs for association with a disease and, later for disease risk prediction. Since genetic predictions rely on heritability, we discuss SNP-based heritability from genome-wide association studies and its contribution to the prediction accuracy of PRS. We review work examining pleiotropy in neurodegenerative diseases and related phenotypes and biomarkers. We conclude that the exploitation of pleiotropy may aid in the identification of novel genes and provide further insights in the disease mechanisms, and along with PRS analysis, may be advantageous for precision medicine.

Indexed as

Genetic PleiotropyGenetic Predisposition to DiseaseMultifactorial InheritancePolymorphism, Single NucleotideHumansNeurodegenerative DiseasesHeritabilityNeurodegenerative diseasePleiotropyPolygenic risk score

Identifiers

PMID32445791
PMCPMC7378564

What OpenQuestion holds

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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.