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Record W2800885900 · doi:10.3389/fnagi.2018.00155

Associations of MAP2K3 Gene Variants With Superior Memory in SuperAgers

2018· article· en· W2800885900 on OpenAlexfundno aff
Matthew J. Huentelman, Ignazio S. Piras, Ashley L. Siniard, Matthew De Both, Ryan Richholt, Chris Balak, Pouya Jamshidi, Eileen H. Bigio, Sandra Weıntraub, Emmaleigh Loyer, M.‐Marsel Mesulam, Changiz Geula, Emily Rogalskı

Bibliographic record

VenueFrontiers in Aging Neuroscience · 2018
Typearticle
Languageen
FieldMedicine
TopicAlzheimer's disease research and treatments
Canadian institutionsnot available
FundersJohnson and Johnson Pharmaceutical Research and DevelopmentJanssen PharmaceuticalsNational Institute on AgingCanadian Institutes of Health ResearchGenentechNational Institutes of HealthH. Lundbeck A/SServierEisaiU.S. Department of DefenseEli Lilly and CompanyLundbeckfondenDavee FoundationNorthern California Institute for Research and EducationPfizerBiogenBioClinicaIXICOTakeda Pharmaceutical CompanyAbbVieNovartisNovartis Pharmaceuticals CorporationBristol-Myers SquibbUniversity of Southern CaliforniaRocheAlzheimer's Drug Discovery FoundationMerckFujirebio EuropeAlzheimer's AssociationFoundation for the National Institutes of HealthGE HealthcareAlzheimer's Disease Neuroimaging InitiativeJohnson and JohnsonMeso Scale Diagnostics
KeywordsExome sequencingSingle-nucleotide polymorphismDementiaBiologyPhenotypeExonGeneticsGeneCognitive declineAlzheimer's diseaseGenetic associationDiseaseFrontotemporal dementiaIntronMedicineGenotypeInternal medicine

Abstract

fetched live from OpenAlex

Introduction: SuperAgers are adults age 80+ with episodic memory performance that is at least as good as that of average middle-aged adults. Understanding the biological determinants of SuperAging may have relevance to preventing age-related cognitive decline and dementia. This study aimed to identify associations between genetic variations and the SuperAging phenotype using Whole Exome Sequencing (WES). Methods: Sequence Kernel Association Combined (SKAT-C) test was conducted at the gene level including both rare and common variants in 56 SuperAgers and 22 cognitively-average controls from the Alzheimer’s Disease Neuroimaging Initiative (ADNI). Results: The SuperAging phenotype was associated with variants in the Mitogen-Activated Protein Kinase Kinase 3 (MAP2K3) gene. Three single nucleotide polymorphisms (SNPs) contributed to the significance (rs2363221 [intron 1], rs2230435 [exon 5], rs736103 [intron 7]). Conclusions: MAP2K3 resides in a biological pathway linked to memory. It is in a signaling cascade associated with beta-amyloid mediated apoptosis and has enriched expression in microglia. This preliminary work suggests MAP2K3 may represent a novel therapeutic target for age-related memory decline and perhaps Alzheimer’s 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 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 categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.005
Threshold uncertainty score0.334

Codex and Gemma teacher scores by category

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

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 head0.028
GPT teacher head0.300
Teacher spread0.272 · 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 teacher head, 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

Citations41
Published2018
Admission routes1
Has abstractyes

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