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Record W4400936970 · doi:10.1101/2024.07.24.24310923

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

2024· preprint· en· W4400936970 on OpenAlexaff
Isabelle F. Foote, Jonny P Flint, Anna E. Fürtjes, 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

VenuemedRxiv · 2024
Typepreprint
Languageen
FieldMedicine
TopicFrailty in Older Adults
Canadian institutionsNova Scotia Health AuthorityDalhousie University
FundersWellcome Trust
KeywordsGenetic architectureEtiologyGenome-wide association studyMultivariate statisticsGenetic associationPopulationGerontologyBiologyMedicineGeneticsGenotypeComputer scienceMachine learningSingle-nucleotide polymorphismPathologyGeneEnvironmental healthQuantitative trait locus

Abstract

fetched live from OpenAlex

Abstract 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. Therefore, we performed the first multivariate genome-wide association study of the latent genetic architecture between 30 frailty deficits, which identified 408 genomic risk loci. Our model included a general factor of genetic overlap across all deficits, plus six novel factors indexing shared genetic signal across specific groups of deficits. Follow-up analyses demonstrated the added clinical and etiological value of the six factors, including predicting frailty in external datasets, divergent genetic correlations with clinically relevant outcomes, and unique underlying biology linked to aging. This suggests nuanced models of frailty are key to understanding its causes and how it relates to worse health.

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)0.018
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 score0.018
Threshold uncertainty score0.038

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0070.018
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0010.002
Bibliometrics0.0020.002
Science and technology studies0.0010.001
Scholarly communication0.0020.001
Open science0.0010.002
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 head0.040
GPT teacher head0.279
Teacher spread0.239 · 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

Citations2
Published2024
Admission routes1
Has abstractyes

Explore more

Same venuemedRxiv→Same topicFrailty in Older Adults→French-language works237,207→