Evidence map›Paper›PMID 38556850›Full record

ReviewAlzheimer's & dementia : the journal of the Alzheimer's Association2024

The ABC's of Alzheimer risk gene ABCA7.

Lena Duchateau, Nicole Wawrzyniak, Kristel Sleegers

Open access · hybridAbstract readReview
In one paragraph

Review in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 1 pooled it
6.8field-weighted citation impact, top 2% 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

22 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.

  1. Genetic and environmental risk factors for dementia in African adults: A systematic review.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Pooled it
  2. Review
  3. Review
  4. Article
  5. Review
  6. Disrupted lipid homeostasis as a pathogenic mechanism in ABCA7-associated Alzheimer's disease risk.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026
    Article
  7. Functional Analysis of Late-Onset Alzheimer's Disease Risk Genes inbioRxiv : the preprint server for biology · 2026
    Article
  8. Article
  9. Genetic risk in Alzheimer's disease.NPJ systems biology and applications · 2026
    Review
  10. Review
  11. PreoperativeFrontiers in bioinformatics · 2026
    Review
  12. Article
  13. Article
  14. Article
  15. Article
  16. Review
  17. Article
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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 at 2 institutions in 1 country.

Lena DuchateauComplex Genetics of Alzheimer's Disease group, VIB-UAntwerp Center for Molecular Neurology, Wilrijk, Antwerp, Belgium.ORCID 0000-0002-1689-7014
Nicole WawrzyniakComplex Genetics of Alzheimer's Disease group, VIB-UAntwerp Center for Molecular Neurology, Wilrijk, Antwerp, Belgium.
Kristel SleegersComplex Genetics of Alzheimer's Disease group, VIB-UAntwerp Center for Molecular Neurology, Wilrijk, Antwerp, Belgium.
University of Antwerp · BEVIB-UAntwerp Center for Molecular Neurology · BE

Funding

Alzheimer's Association AARG-20-683760Research Foundation - Flanders 11F2521NResearch Foundation - Flanders 11PFW24NResearch Foundation - Flanders G030718NSpecial Research Fund of the University of AntwerpStichting Alzheimer Onderzoek SAO-FRA20230050
6 · The paper itself

Abstract

Alzheimer's disease (AD) is a growing problem worldwide. Since ABCA7's identification as a risk gene, it has been extensively researched for its role in the disease. We review its recently characterized structure and what the mechanistic insights teach us about its function. We furthermore provide an overview of identified ABCA7 mutations, their presence in different ancestries and protein domains and how they might cause AD. For ABCA7 PTC variants and a VNTR expansion, haploinsufficiency is proposed as the most likely mode-of-action, although splice events could further influence disease risk. Overall, the need to better understand expression of canonical ABCA7 and its isoforms in disease is indicated. Finally, ABCA7's potential functions in lipid metabolism, phagocytosis, amyloid deposition, and the interplay between these three, is described. To conclude, in this review, we provide a comprehensive overview and discussion about the current knowledge on ABCA7 in AD, and what research questions remain. HIGHLIGHTS: Alzheimer's risk-increasing variants in ABCA7 can be found in up to 7% of AD patients. We review the recently characterized protein structure of ABCA7. We present latest insights in genetics, expression patterns, and functions of ABCA7.

Indexed as

Alzheimer DiseaseATP-Binding Cassette TransportersAnimalsGenetic Predisposition to DiseaseHumansMutationATP-Binding Cassette TransportersABCA7Alzheimer's diseaseamyloid metabolismlipid metabolismmissense mutationphagocytosisPTC mutationRNA expressionVNTR repeat

Identifiers

PMID38556850
PMCPMC11095487
OpenAlexW4393383866

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.