Evidence map›Paper›PMID 32818802›Full record

SynthesisEBioMedicine2020

Apolipoprotein E (APOE) genotype-associated disease risks: a phenome-wide, registry-based, case-control study utilising the UK Biobank.

Amanda L Lumsden, Anwar Mulugeta, Ang Zhou, Elina Hyppönen

Abstract readMeta-Analysis
In one paragraph

Synthesis in EBioMedicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 180 papers, 8 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
180citing papers in PubMed, 8 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

180 citing papers in PubMed, 8 syntheses or guidelines pooled it.

  1. Pooled it
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  5. COVID-19 associated cognitive impairment: A systematic review.Cortex; a journal devoted to the study of the nervous system and behavior · 2022
    Pooled it
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  7. Apolipoprotein EDisease markers · 2022
    Pooled it
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  15. The Association BetweenNeurology. Genetics · 2026
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  18. Review
  19. The Variant T Allele ofBiomolecules · 2026
    Article
  20. Article

120 more citing papers are in PubMed but not listed here.

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.

Amanda L LumsdenAustralian Centre for Precision Health, Cancer Research Institute, University of South Australia, Adelaide, SA 5001, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia.
Anwar MulugetaAustralian Centre for Precision Health, Cancer Research Institute, University of South Australia, Adelaide, SA 5001, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia; Department of Pharmacology and Clinical Pharmacy, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.
Ang ZhouAustralian Centre for Precision Health, Cancer Research Institute, University of South Australia, Adelaide, SA 5001, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia.
Elina HyppönenAustralian Centre for Precision Health, Cancer Research Institute, University of South Australia, Adelaide, SA 5001, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia. Electronic address: elina.hypponen@unisa.edu.au.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe three main alleles of the APOE gene (ε4, ε3 and ε2) carry differential risks for conditions including Alzheimer's disease (AD) and cardiovascular disease. Due to their clinical significance, we explored disease associations of the APOE genotypes using a hypothesis-free, data-driven, phenome-wide association study (PheWAS) approach.

methodsWe used data from the UK Biobank to screen for associations between APOE genotypes and over 950 disease outcomes using genotype ε3ε3 as a reference. Data was restricted to 337,484 white British participants (aged 37-73 years).

findingsAfter correction for multiple testing, PheWAS analyses identified associations with 37 outcomes, representing 18 distinct diseases. As expected, ε3ε4 and ε4ε4 genotypes associated with increased odds of AD (p ≤ 7.6 × 10

interpretationPheWAS confirms strong associations between APOE and AD, hypercholesterolaemia, and ischaemic heart disease, and suggests potential ε4-associated disease protection and harmful effects of the ε2ε2 genotype, for several conditions.

fundingNational Health and Medical Research Council of Australia.

Indexed as

Genetic Association StudiesGenetic Predisposition to DiseaseGenotypeAdultAgedAllelesApolipoproteins EBiological Specimen BanksCase-Control StudiesFemaleHumansMaleMiddle AgedPhenotypePopulation SurveillanceRegistriesApolipoproteins EAPOEApolipoprotein EBiomarkersDisease riskPhenome-wide associationPheWAS

Identifiers

PMID32818802
PMCPMC7452404

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.