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Record W4412929242 · doi:10.1038/s41588-025-02269-0

Uncovering the multivariate genetic architecture of frailty with genomic structural equation modeling

2025· article· en· W4412929242 on OpenAlexafffund
Isabelle F. Foote, Jonny P Flint, Anna E. Fürtjes, Jeremy M Lawrence, Donncha S. Mullin, John D. Fisk, Tobias K. Karakach, Andrew D. Rutenberg, Nicholas G. Martin, Michelle K. Lupton, David J. Llewellyn, Janice M. Ranson, Simon R. Cox, Michelle Luciano, Kenneth Rockwood, Andrew D. Grotzinger

Bibliographic record

VenueNature Genetics · 2025
Typearticle
Languageen
FieldMedicine
TopicFrailty in Older Adults
Canadian institutionsNova Scotia Health AuthorityDalhousie University
FundersNational Institute of Mental HealthNational Institute on AgingEconomic and Social Research CouncilMedical Research CouncilNational Health and Medical Research CouncilDalhousie UniversityNatural Sciences and Engineering Research Council of CanadaAlzheimer’s Research UKNational Institute for Health and Care ResearchUniversity of EdinburghUniversity of ExeterMultiple Sclerosis SocietyAge UKGovernment of the United KingdomDirectorate for Biological SciencesU.S. Department of Health and Human ServicesGovernment of CanadaWellcome TrustCanadian Institutes of Health ResearchWellcome
KeywordsBiologyMultivariate statisticsStructural equation modelingGenetic architectureMultivariate analysisComputational biologyEvolutionary biologyGeneticsStatisticsPhenotypeGeneMathematics

Abstract

fetched live from OpenAlex

Frailty is a multifaceted clinical state associated with accelerated aging and adverse health outcomes. Informed etiological models of frailty hold promise for producing widespread health improvements across the aging population. Frailty is currently measured using aggregate scores, which obscure etiological pathways that are only relevant to subcomponents of frailty. Here we perform a multivariate genome-wide association study of the latent genetic architecture between 30 frailty deficits, which identifies 408 genomic risk loci. Our model includes a general factor of genetic overlap across all deficits, plus six new factors indexing a shared genetic signal across specific groups of deficits. We demonstrate the added clinical and etiological value of the six factors, including predicting frailty in external datasets, highlighting divergent genetic correlations with clinically relevant outcomes and uncovering unique underlying biology linked to aging. We show that nuanced models of frailty are key to understanding its causes and how it relates to worse health. Multivariate genome-wide association analyses of the latent genetic architecture of frailty identify one general factor of genetic overlap across all frailty deficits and six factors indexing a shared genetic signal across specific groups of deficits.

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)0.006
metaresearch head score (Gemma)0.020
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Simulation or modeling · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.025
Threshold uncertainty score0.050

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0060.020
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0010.003
Bibliometrics0.0020.003
Science and technology studies0.0010.001
Scholarly communication0.0010.001
Open science0.0010.002
Research integrity0.0010.002
Insufficient payload (model declined to judge)0.0020.000

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 head0.282
Teacher spread0.267 · 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 designSimulation or modeling
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

Citations14
Published2025
Admission routes2
Has abstractno

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