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Using Machine Learning to Study the Effects of Genetic Predisposition on Brain Aging in the UK Biobank

2023· article· en· W4386352857 on OpenAlexaff
Karen Ardila, Emily Munro, Fernando Vega, Aashka Mohite, Charlotte Curtis, Amanda V. Tyndall, M. Ethan MacDonald

Bibliographic record

Venuenot available
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsMount Royal UniversityHotchkiss Brain InstituteMitacsUniversity of Calgary
Fundersnot available
KeywordsBrain sizeGenetic predispositionSingle-nucleotide polymorphismBiobankBiologyBrain agingAging brainGenome-wide association studyNeurodegenerationBiomarkerGenetic associationHealthy agingGeneticsGeneNeuroscienceGenotypeMedicineInternal medicineDiseaseGerontologyMagnetic resonance imaging

Abstract

fetched live from OpenAlex

The influence of genetic predisposition on changes in brain morphology during aging remains largely unknown. This study explores the effects of genetic predisposition on three key brain regions: total brain volume (TBV), lateral ventricular volume (LVV), and total hippocampal volume (THV). The brain age gap estimate (BrainAGE) biomarker is used as an input to a genome-wide association study to determine which single nucleotide polymorphisms (SNPs) and genes are associated with accelerated brain aging. Six independent significant SNPs were found to contribute to accelerated morphological changes: TBV had associations on chromosome 17 linked with brain aging, and the total THV had independent significant associations in the APOC1 and TOMM40 gene regions related to neurodegeneration. Lastly, LVV presented a possible novel discovery in the gene NUAK1, known to play a role in cellular senescence. This study provides a framework to uncover complex associations between brain aging physiology and genetics.

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)0.005
metaresearch head score (Gemma)0.025
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: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.033
Threshold uncertainty score0.067

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0050.025
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0020.002
Science and technology studies0.0000.000
Scholarly communication0.0010.001
Open science0.0000.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0020.001

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 head0.018
GPT teacher head0.309
Teacher spread0.291 · 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
Published2023
Admission routes1
Has abstractyes

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