ArticleJournal of Alzheimer's disease reports
KIAA0319 modulates Alzheimer's disease risk through PMM2 regulation: Evidence from integrated pQTL-mediation and transcriptomic analyses.
Article in Journal of Alzheimer's disease reports. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
2 citing papers in PubMed.
- Population-scale burden analysis of rare damaging coding variants identifies novel risk genes for Alzheimer's disease and Parkinson's disease.medRxiv : the preprint server for health sciences · 2026Article
- Epigenetic Signatures in an Italian Cohort of Parkinson's Disease Patients from Sicily.Brain sciences · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Genome-wide studies have identified multiple risk genes for Alzheimer's disease (AD), yet the causal protein interactions and pathways driving AD pathogenesis remain unclear. Objective: This study aimed to assess the causal relationships between plasma proteins and AD risk, and to delineate protein-mediated regulatory pathways involved in AD pathogenesis. Methods: We assessed the causal relationships between plasma proteins and AD risk using protein quantitative trait loci (pQTL) data from two large-scale resources: the UK Biobank Pharma Proteomics Project (UKB-PPP) and deCODE genetics. These data were integrated with genome-wide association studies (GWAS) on AD. We applied two-sample Mendelian randomization (MR), followed by two-step MR and mediation analyses, to delineate causal regulatory pathways and quantify mediating effects of proteins in AD pathogenesis. To further provide supporting evidence, we analyzed transcriptomic data from postmortem AD brain tissues (GSE33000, Gene Expression Omnibus) and conducted differential expression analyses. Results: In the UK Biobank cohort, seven upstream proteins showed causal associations with six downstream proteins in the deCODE cohort, which in turn influenced AD risk through both positive and negative regulatory effects (p < 0.05). Transcriptomic analysis demonstrated significant downregulation of Conclusions: This integrative analysis uncovered a novel KIAA0319-PMM2 regulatory axis implicated in AD pathogenesis. Both proteins represent potential therapeutic targets for future AD interventions.
Indexed as
Identifiers
What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.