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Record W2766035972 · doi:10.1016/j.jalz.2017.12.004

<i>CDK5RAP2</i> gene and tau pathophysiology in late‐onset sporadic Alzheimer's disease

2018· article· en· W2766035972 on OpenAlexafffundabout
Justin Miron, Cynthia Picard, Nathalie Nilsson, Josée Frappier, Doris Dea, Louise Théroux

Bibliographic record

VenueAlzheimer s & Dementia · 2018
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsMcGill UniversityDouglas Mental Health University Institute
FundersCanadian Institutes of Health ResearchUniversity of California, San DiegoGenentechNational Institutes of HealthIXICOServierInstitut National de la Santé et de la Recherche MédicaleKing's College LondonKing Faisal Specialist Hospital and Research CentreBundesministerium für Bildung und ForschungNational Institute on AgingNational Institute for Health and Care ResearchNorthern California Institute for Research and EducationAgence Nationale de la RechercheWellcome TrustUniversity of Southern CaliforniaNatural Sciences and Engineering Research Council of CanadaPfizerBioClinicaBiogenAlzheimer SocietyEisaiDevelopment of Innovative Strategies for a Transdisciplinary approach to ALZheimer's diseaseU.S. Department of DefenseEli Lilly and CompanyBristol-Myers SquibbCentre hospitalier régional universitaire de LilleH. Lundbeck A/SAlzheimer’s Research UKMedical Research CouncilMeso Scale DiagnosticsAlzheimer's Disease Neuroimaging InitiativeNational Heart, Lung, and Blood InstituteNovartis Pharmaceuticals CorporationWellcomeAlzheimer's Association
KeywordsDiseaseSingle-nucleotide polymorphismBiologyGenetic associationGeneticsGeneAlzheimer's diseaseAlleleGenome-wide association studyGenetic variationPopulationMedicineGenotypeInternal medicine

Abstract

fetched live from OpenAlex

INTRODUCTION: Because currently known Alzheimer's disease (AD) single-nucleotide polymorphisms only account for a small fraction of the genetic variance in this disease, there is a need to identify new variants associated with AD. METHODS: Our team performed a genome-wide association study in the Quebec Founder Population isolate to identify novel protective or risk genetic factors for late-onset sporadic AD and examined the impact of these variants on gene expression and AD pathology. RESULTS: The rs10984186 variant is associated with an increased risk of developing AD and with a higher CDK5RAP2 mRNA prevalence in the hippocampus. On the other hand, the rs4837766 variant, which is among the best cis-expression quantitative trait loci in the CDK5RAP2 gene, is associated with lower mild cognitive impairment/AD risk and conversion rate. DISCUSSION: The rs10984186 risk and rs4837766 protective polymorphic variants of the CDK5RAP2 gene might act as potent genetic modifiers for AD risk and/or conversion by modulating the expression of this gene.

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)0.000
metaresearch head score (Gemma)0.001
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 score0.075
Threshold uncertainty score0.150

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
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 head0.014
GPT teacher head0.256
Teacher spread0.243 · 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

Citations17
Published2018
Admission routes3
Has abstractyes

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