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Record W4408070166 · doi:10.1002/hbm.70171

Association Between Single Nucleotide Polymorphisms in the Aquaporin‐4 Gene and Longitudinal Changes in White Matter Free Water and Cognitive Function in Non‐Demented Older Adults

2025· article· en· W4408070166 on OpenAlexfundno aff
Lingyun Liu, Qingze Zeng, Xiao Luo, Hui Hong, Yi Fang, Linyun Xie, Yao Zhang, Lin Miao, Shuyue Wang, Kaicheng Li, Xiaocao Liu, Ruiting Zhang, Yanxing Chen, Yunjun Yang, Peiyu Huang

Bibliographic record

VenueHuman Brain Mapping · 2025
Typearticle
Languageen
FieldMedicine
TopicBirth, Development, and Health
Canadian institutionsnot available
FundersNatural Science Foundation of Zhejiang ProvinceNational Institute of Biomedical Imaging and BioengineeringCanadian Institutes of Health ResearchUniversity of California, San DiegoNational Institutes of HealthH. Lundbeck A/SServierGenentechIXICONational Natural Science Foundation of ChinaNorthern California Institute for Research and EducationPfizerNovartis Pharmaceuticals CorporationUniversity of Southern CaliforniaBiogenEli Lilly and CompanyBristol-Myers SquibbEisaiNational Institute on AgingAlzheimer's AssociationU.S. Department of Defense
KeywordsSingle-nucleotide polymorphismWhite matterAssociation (psychology)CognitionWhite (mutation)GeneticsGenePsychologyLongitudinal studyNeuroscienceBiologyMedicineGenotypeMagnetic resonance imagingPathology

Abstract

fetched live from OpenAlex

We investigated whether aquaporin-4 (AQP4) single-nucleotide polymorphisms (SNPs) influence Alzheimer's disease (AD) progression through changes in the glymphatic system. We included 242 non-dementia participants and chose six SNPs previously shown to be related to AD. We analyzed the associations between AQP4 SNPs and glymphatic markers, including enlarged perivascular spaces (PVS), white matter free water (FW), and diffusion tensor image analysis along the perivascular space (DTI-ALPS), in both cross-sectional and longitudinal data. We investigated whether AQP4-related glymphatic markers are associated with AD pathology progression and cognitive impairment, and whether they mediate the relationship between AQP4 SNPs and AD progression. There was no association between AQP4 SNPs and glymphatic markers at baseline. Carriers of the AQP4 SNP rs72878794 minor allele status exhibited slower FW increase in the amyloid-positive group (SNP*time: β = -0.0040, t(46.25) = -2.062, p = 0.045, 95% CI = -0.0078 ~ -0.0001), whereas the rs9951307 minor allele carrier showed a faster FW increase in the amyloid-negative group (SNP*time: β =0.0033, t(81.19) = 2.245, p = 0.027, 95% CI = 0.0004 ~ 0.0062). The higher FW was associated with faster cognitive decline at follow-ups. AQP4 SNPs influence interstitial fluid accumulation, contributing to cognitive decline but not amyloid deposition in AD. Further studies are needed to clarify the pathways linking AQP4 SNPs and AD progression.

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)0.001
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 score0.015
Threshold uncertainty score0.436

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
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 head0.026
GPT teacher head0.264
Teacher spread0.238 · 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

Citations12
Published2025
Admission routes1
Has abstractyes

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