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Record W4415786488 · doi:10.1038/s41598-025-22004-3

A multivariate approach to identify association between peripheral blood DNA methylation and cerebrospinal fluid biomarkers of Alzheimer disease

2025· article· en· W4415786488 on OpenAlexafffundabout
Bowei Xiao, Yixiao Zeng, Kathleen Klein, Bianca Granato, Mathieu Blanchette, Xiaojian Shao, Celia M. T. Greenwood

Bibliographic record

VenueScientific Reports · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicEpigenetics and DNA Methylation
Canadian institutionsMcGill University Health CentreNational Research Council CanadaUniversity of OttawaJewish General HospitalMcGill University
FundersFonds de recherche du Québec – Nature et technologiesNational Research Council CanadaCanadian Institutes of Health ResearchNational Institutes of HealthGenentechIXICOH. Lundbeck A/SServierEisaiGovernment of CanadaNorthern California Institute for Research and EducationMcGill UniversityPfizerNovartis Pharmaceuticals CorporationBiogenEli Lilly and CompanyBristol-Myers SquibbBioClinicaAlzheimer's Disease Neuroimaging InitiativeMeso Scale DiagnosticsNational Institute on AgingAlzheimer's AssociationFoundation for the National Institutes of Health
KeywordsMultivariate statisticsDNA methylationEpigeneticsMultivariate analysisMethylationNeuroimagingAlzheimer's Disease Neuroimaging InitiativeDiseaseAlzheimer's disease

Abstract

fetched live from OpenAlex

DNA methylation has been shown to play a crucial role in many diseases, including Alzheimer's disease (AD). Although many studies have correlated DNA methylation in blood samples with risk of clinical AD diagnosis, few have examined links with AD neuropathology. Using data from the Alzheimer's Disease Neuroimaging Initiative (ADNI) study, we investigate the associations between peripheral blood DNA methylation and three AD-associated biomarkers in cerebrospinal fluid: amyloid-β, phosphorylated tau-181, and total tau using an innovative multivariate approach. In our approach, we first adjusted the methylation values for covariates that have known wide-spread effects on methylation. We then developed and implemented a multivariate penalized model to find associations, jointly, between CSF biomarkers and sets of methylation residuals defined by regions around each gene. These penalized models then selected probes showing associations with one or more CSF biomarkers. We demonstrate, using both simulations and actual data, that our proposed multivariate approach is beneficial for detecting weak signals. We also provide complementary validation using data from the Canadian Longitudinal Study on Aging. Our multivariate strategy has the potential to increase feature selection accuracy among correlated predictors in epigenetic studies.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.007
metaresearch head score (Gemma)0.017
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.009
Threshold uncertainty score0.036

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0070.017
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0010.003
Bibliometrics0.0020.002
Science and technology studies0.0010.001
Scholarly communication0.0010.001
Open science0.0020.002
Research integrity0.0010.002
Insufficient payload (model declined to judge)0.0030.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.016
GPT teacher head0.301
Teacher spread0.284 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations0
Published2025
Admission routes3
Has abstractyes

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