MétaCan
Menu
Back to cohort
Record W4290803778 · doi:10.1038/s41467-022-32183-6

The causes and consequences of Alzheimer’s disease: phenome-wide evidence from Mendelian randomization

2022· article· en· W4290803778 on OpenAlexfundno aff
Roxanna Korologou‐Linden, Laxmi Bhatta, Ben Brumpton, Laura D Howe, Louise A C Millard, Katarina Kolaric, Yoav Ben‐Shlomo, Dylan M. Williams, George Davey Smith, Emma L. Anderson, Evie Stergiakouli, Neil M Davies

Bibliographic record

VenueNature Communications · 2022
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsnot available
FundersU.S. National Library of MedicineNational Human Genome Research InstituteNational Heart, Lung, and Blood InstituteNational Institute on AgingMedical Research CouncilNorwegian Institute of Public HealthNational Institutes of HealthSt. Olavs Hospital Universitetssykehuset i TrondheimNational Alzheimer's Coordinating CenterNorges ForskningsrådVanderbilt UniversityFaculty of Medicine and Health, University of SydneyInstitut National de la Santé et de la Recherche MédicaleFakultet for medisin og helsevitenskap, Norges Teknisk-Naturvitenskapelige UniversitetEconomic and Social Research CouncilBroad InstituteCase Western Reserve UniversityStiftelsen Kristian Gerhard JebsenNorges Teknisk-Naturvitenskapelige UniversitetHelse Midt-NorgeUniversity of BristolAgence Nationale de la RechercheWellcome TrustUniversity of PennsylvaniaUniversity of MiamiDevelopment of Innovative Strategies for a Transdisciplinary approach to ALZheimer's diseaseUniversity of Toronto
KeywordsMendelian randomizationPhenomeDiseaseBiobankApolipoprotein EPleiotropyRisk factorAlzheimer's diseaseDementiaMedicineBioinformaticsBiologyGeneticsInternal medicineGenePhenotypeGenotypeGenetic variants

Abstract

fetched live from OpenAlex

Alzheimer's disease (AD) has no proven causal and modifiable risk factors, or effective interventions. We report a phenome-wide association study (PheWAS) of genetic liability for AD in 334,968 participants of the UK Biobank study, stratified by age. We also examined the effects of AD genetic liability on previously implicated risk factors. We replicated these analyses in the HUNT study. PheWAS hits and previously implicated risk factors were followed up in a Mendelian randomization (MR) framework to identify the causal effect of each risk factor on AD risk. A higher genetic liability for AD was associated with medical history and cognitive, lifestyle, physical and blood-based measures as early as 39 years of age. These effects were largely driven by the APOE gene. The follow-up MR analyses were primarily null, implying that most of these associations are likely to be a consequence of prodromal disease or selection bias, rather than the risk factor causing the disease.

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)0.033
metaresearch head score (Gemma)0.072
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 score0.174

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0330.072
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.002
Bibliometrics0.0010.001
Science and technology studies0.0010.002
Scholarly communication0.0010.001
Open science0.0010.001
Research integrity0.0010.001
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 head0.034
GPT teacher head0.318
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

Citations69
Published2022
Admission routes1
Has abstractyes

Explore more

Same venueNature CommunicationsSame topicGenetic Associations and EpidemiologyFrench-language works237,207