ArticleCancer biomarkers : section A of Disease markers
Integrative multi-omics analysis-based Mendelian randomization identifies association of DNA repair-related genes with oral cancer.
Article in Cancer biomarkers : section A of Disease markers. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BackgroundThis study aimed to identify DNA repair-related genes causally affecting OCC risk by integrating multi-omics data using summary data-based Mendelian randomization (SMR).MethodsSMR analyses were performed using GWAS, mQTL, eQTL, and pQTL data. Causal associations were assessed via SMR and HEIDI tests, and colocalization analysis identified shared genetic variants. Findings were validated in the FinnGen_OCC cohort.ResultsThis study identified 160 methylation sites (96 genes), 30 eQTLs, and 2 pQTLs linked to OCC. Colocalization confirmed 96 mQTLs, 20 eQTLs, and 2 pQTLs (GPN1, HNRNPAB). Five mQTLs (ANK1, HLA C, TERT, TUBB, VHL) replicated in FinnGen. Integration of mQTL and eQTL data highlighted VHL, TP73, and JMJD1C, implicating DNA methylation-mediated regulation. Multi-omics and tissue analyses identified VHL as the most consistent risk gene, supported by colocalization, TCGA HNSC transcriptomic validation (P < 0.01), and DepMap functional data. GEN1 and POU5F1 expression in salivary gland tissue also associated with OCC risk.ConclusionThis multilayer SMR study reveals causal links between DNA repair-related genes and OCC, highlighting VHL as a key driver and suggesting targets for early detection and precision therapy.
Indexed as
Identifiers
What OpenQuestion 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 OpenQuestion graph.