Evidence map›Paper›PMID 36399096›Full record

ArticleAging2022

Associations of the APOE ε2 and ε4 alleles and polygenic profiles comprising APOE-TOMM40-APOC1 variants with Alzheimer's disease biomarkers.

Alexander M Kulminski, Ethan Jain-Washburn, Elena Loiko, Yury Loika, Fan Feng, Irina Culminskaya, Alzheimer’s Disease Neuroimaging Initiative

Open access · hybridAbstract read
In one paragraph

Article in Aging, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
1.9field-weighted citation impact, top 13% 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

15 citing papers in PubMed, 18 citations in OpenAlex.

  1. Article
  2. APOE and plasma AD biomarkers: The role of genetic ancestry in Hispanics/Latinos.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026
    Article
  3. Review
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  15. Alzheimer's & dementia (Amsterdam, Netherlands)
    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

7 authors at 1 institution in 1 country.

Alexander M KulminskiBiodemography of Aging Research Unit, Social Science Research Institute, Duke University, Durham, NC 27705, USA.
Ethan Jain-WashburnBiodemography of Aging Research Unit, Social Science Research Institute, Duke University, Durham, NC 27705, USA.
Elena LoikoBiodemography of Aging Research Unit, Social Science Research Institute, Duke University, Durham, NC 27705, USA.
Yury LoikaBiodemography of Aging Research Unit, Social Science Research Institute, Duke University, Durham, NC 27705, USA.
Fan FengBiodemography of Aging Research Unit, Social Science Research Institute, Duke University, Durham, NC 27705, USA.
Irina CulminskayaBiodemography of Aging Research Unit, Social Science Research Institute, Duke University, Durham, NC 27705, USA.
Alzheimer’s Disease Neuroimaging InitiativeCenter for Imaging of Neurodegenerative Disease, University of California, San Francisco, CA 94143, USA.
Social Science Research Council · US

Funding

ApoE2 and protective molecular signatures in Alzheimer's disease and agingR01AG061853 · NIA · DUKE UNIVERSITY · PI KULMINSKI, ALEXANDER M · 2018 to 2022
$3.9M
Personalized genetic profiles of risk and resilience in Alzheimer's and vascular diseasesR01AG065477 · NIA · DUKE UNIVERSITY · PI KULMINSKI, ALEXANDER M · 2020 to 2024
$3.8M
Dissecting genetic and non-genetic heterogeneity in predisposition to Alzheimer's disease and vascular traits in pleiotropic contextR01AG070488 · NIA · DUKE UNIVERSITY · PI KULMINSKI, ALEXANDER M, OUKRAINTSEVA, SVETLANA V. · 2020 to 2024
$2.8M
NIA NIH HHS R01 AG061853NIA NIH HHS R01 AG065477NIA NIH HHS R01 AG070488
6 · The paper itself

Abstract

Capturing the genetic architecture of Alzheimer's disease (AD) is challenging because of the complex interplay of genetic and non-genetic factors in its etiology. It has been suggested that AD biomarkers may improve the characterization of AD pathology and its genetic architecture. Most studies have focused on connections of individual genetic variants with AD biomarkers, whereas the role of combinations of genetic variants is substantially underexplored. We examined the associations of the APOE ε2 and ε4 alleles and polygenic profiles comprising the ε4-encoding rs429358, TOMM40 rs2075650, and APOC1 rs12721046 polymorphisms with cerebrospinal fluid (CSF) and plasma amyloid β (Aβ40 and Aβ42) and tau biomarkers. Our findings support associations of the ε4 alleles with both plasma and CSF Aβ42 and CSF tau, and the ε2 alleles with baseline, but not longitudinal, CSF Aβ42 measurements. We found that the ε4-bearing polygenic profiles conferring higher and lower AD risks are differentially associated with tau but not Aβ42. Modulation of the effect of the ε4 alleles by TOMM40 and APOC1 variants indicates the potential genetic mechanism of differential roles of Aβ and tau in AD pathogenesis.

Indexed as

Alzheimer DiseaseAllelesAmyloid beta-PeptidesApolipoprotein C-IApolipoprotein E2Apolipoproteins EBiomarkersHumansMitochondrial Precursor Protein Import Complex ProteinsPeptide Fragmentstau ProteinsAmyloid beta-PeptidesAPOC1 protein, humanApolipoprotein C-IApolipoprotein E2Apolipoproteins EBiomarkersMitochondrial Precursor Protein Import Complex ProteinsPeptide Fragmentstau ProteinsTOMM40 protein, humanagingAlzheimer’s diseaseAlzheimer’s disease biomarkersapolipoprotein E polymorphismhaplotypes

Identifiers

PMID36399096
PMCPMC9831745
OpenAlexW4309363316

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.