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Record W4321002451 · doi:10.1002/alz.12990

Neuropathology‐based <i>APOE</i> genetic risk score better quantifies Alzheimer's risk

2023· article· en· W4321002451 on OpenAlexfundno aff
Yuetiva Deming, Eva Vasiljevic, Autumn Morrow, Jiacheng Miao, Carol Van Hulle, Erin M. Jonaitis, Yue Ma, Vanessa M Whitenack, Gwendlyn Kollmorgen, Norbert Wild, Ivonne Suridjan, Leslie M. Shaw, Sanjay Asthana, Cynthia M. Carlsson, Sterling C. Johnson, Henrik Zetterberg, Kaj Blennow, Barbara B. Bendlin, Qiongshi Lu, Corinne D. Engelman

Bibliographic record

VenueAlzheimer s & Dementia · 2023
Typearticle
Languageen
FieldMedicine
TopicDementia and Cognitive Impairment Research
Canadian institutionsnot available
FundersNational Institute on AgingCanadian Institutes of Health ResearchGenentechNational Institutes of HealthUK Dementia Research InstituteJulius ClinicalIXICOH. Lundbeck A/SEuropean CommissionFamiljen Erling-Perssons StiftelseHjärnfondenGeorgia Clinical and Translational Science AllianceVetenskapsrådetEisaiHORIZON EUROPE Framework ProgrammeServierEU Joint Programme – Neurodegenerative Disease ResearchPfizerBiogenBioClinicaAlzheimer's AssociationStiftelsen för Gamla TjänarinnorUniversity of Southern CaliforniaEli Lilly and CompanyU.S. Department of DefenseNational Center for Advancing Translational SciencesMeso Scale DiagnosticsAlzheimer's Disease Neuroimaging InitiativeNovartis Pharmaceuticals CorporationBristol-Myers SquibbUniversity of PennsylvaniaAlzheimer's Drug Discovery Foundation
KeywordsApolipoprotein ENeuropathologyAlzheimer's Disease Neuroimaging InitiativeAlzheimer's diseasePsychologyAlleleMedicineDiseaseInternal medicineDementiaOncologyBiologyGeneticsGene

Abstract

fetched live from OpenAlex

INTRODUCTION: Apolipoprotein E (APOE) ε4-carrier status or ε4 allele count are included in analyses to account for the APOE genetic effect on Alzheimer's disease (AD); however, this does not account for protective effects of APOE ε2 or heterogeneous effect of ε2, ε3, and ε4 haplotypes. METHODS: We leveraged results from an autopsy-confirmed AD study to generate a weighted risk score for APOE (APOE-npscore). We regressed cerebrospinal fluid (CSF) amyloid and tau biomarkers on APOE variables from the Wisconsin Registry for Alzheimer's Prevention (WRAP), Wisconsin Alzheimer's Disease Research Center (WADRC), and Alzheimer's Disease Neuroimaging Initiative (ADNI). RESULTS: The APOE-npscore explained more variance and provided a better model fit for all three CSF measures than APOE ε4-carrier status and ε4 allele count. These findings were replicated in ADNI and observed in subsets of cognitively unimpaired (CU) participants. DISCUSSION: The APOE-npscore reflects the genetic effect on neuropathology and provides an improved method to account for APOE in AD-related analyses.

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)0.002
metaresearch head score (Gemma)0.005
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 score0.007
Threshold uncertainty score0.014

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0020.005
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0010.000
Open science0.0010.000
Research integrity0.0000.000
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 head0.044
GPT teacher head0.310
Teacher spread0.266 · 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

Citations22
Published2023
Admission routes1
Has abstractyes

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