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Record W2586698568 · doi:10.1016/j.jalz.2016.12.012

Transethnic genome‐wide scan identifies novel Alzheimer's disease loci

2017· article· en· W2586698568 on OpenAlex

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.

Bibliographic record

VenueAlzheimer s & Dementia · 2017
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsOccupational Cancer Research CentreUniversity of Toronto
FundersNational Center for Research ResourcesNational Institute of General Medical SciencesNational Cancer InstituteNational Human Genome Research InstituteNational Institute on AgingNational Center for Advancing Translational SciencesMedical Research CouncilUniversity of California, IrvineUniversity of California, San DiegoUniversity of California, DavisUniversity of California, Los AngelesNational Institutes of HealthRosetrees TrustBanner Alzheimer’s FoundationNational Institute of Neurological Disorders and StrokeUniversity of PittsburghJohns Hopkins UniversityUniversity of WashingtonBoston UniversityUniversity of MiamiNorthwestern UniversityNew York UniversityUniversity of KentuckyEmory UniversityUniversity of California, San FranciscoIndiana UniversityUniversity of PennsylvaniaVanderbilt UniversityMayo ClinicUniversity of MichiganUniversity of Southern CaliforniaWellcome TrustDuke UniversityColumbia UniversityRush UniversityNational Institute of Mental HealthNational Association for Colitis and Crohn's DiseaseUniversity of Alabama at BirminghamMassachusetts General HospitalGlaxoSmithKlineParkinson's UKUniversity of Arizona
KeywordsGenome-wide association studySingle-nucleotide polymorphismSNPGeneticsLocus (genetics)Genetic associationBiologyGenetic architectureAlleleApolipoprotein EDiseaseAlzheimer's diseaseGeneGenotypeMedicineQuantitative trait locusPathology

Abstract

fetched live from OpenAlex

Abstract Introduction Genetic loci for Alzheimer's disease (AD) have been identified in whites of European ancestry, but the genetic architecture of AD among other populations is less understood. Methods We conducted a transethnic genome‐wide association study (GWAS) for late‐onset AD in Stage 1 sample including whites of European Ancestry, African‐Americans, Japanese, and Israeli‐Arabs assembled by the Alzheimer's Disease Genetics Consortium. Suggestive results from Stage 1 from novel loci were followed up using summarized results in the International Genomics Alzheimer's Project GWAS dataset. Results Genome‐wide significant (GWS) associations in single‐nucleotide polymorphism (SNP)–based tests ( P < 5 × 10 −8 ) were identified for SNPs in PFDN1/HBEGF , USP6NL/ECHDC3 , and BZRAP1‐AS1 and for the interaction of the (apolipoprotein E) APOE ε4 allele with NFIC SNP. We also obtained GWS evidence ( P < 2.7 × 10 −6 ) for gene‐based association in the total sample with a novel locus, TPBG ( P = 1.8 × 10 −6 ). Discussion Our findings highlight the value of transethnic studies for identifying novel AD susceptibility loci.

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.

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.316
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0010.000
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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 head0.033
GPT teacher head0.292
Teacher spread0.259 · 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