ArticleTranslational vision science & technology2026
Cross-Tissue Transcriptome-Wide Association Study and TWAS-FOCUS Fine-Mapping Reveal Novel Susceptibility Genes for Primary Open-Angle Glaucoma.
Article in Translational vision science & technology, 2026. 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
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: Primary open-angle glaucoma (POAG) is a common eye disorder that can lead to irreversible vision loss. Although genome-wide association studies (GWAS) have identified several genetic loci associated with POAG risk, the specific causative genes and mechanisms remain unclear. Methods: This study utilized the Unified Test for Molecular Signature (UTMOST) for cross-tissue analysis, along with Functional Summary-based Imputation (FUSION) and Fine-mapping of Causal Gene Sets (FOCUS) for single-tissue validation, analyzing a POAG GWAS dataset comprising 192,702 subjects (15,229 cases and 177,473 controls) in conjunction with Genotype-Tissue Expression Project (GTEx) version 8 eQTL files. Additionally, multi-marker analysis of genomic annotation (MAGMA), Mendelian randomization, and colocalization analysis were used to further validate candidate genes. Results: The cross-tissue transcriptome-wide association study (TWAS) analysis identified 33 significant genes associated with POAG, whereas single-tissue validation revealed 18 significant genes. Conditional and Joint (COJO) analysis consistently identified nine candidate genes, with AFAP1 showing a significant causal relationship with POAG (P < 0.05), whereas FMNL2 did not (P > 0.05). Colocalization analysis indicated strong colocalization of AFAP1 with POAG in skeletal muscle and breast tissue, and significant colocalization of FMNL2 in the terminal ileum. Conclusions: This comprehensive analysis identified AFAP1 and FMNL2 as key susceptibility genes for POAG, highlighting FMNL2's regulatory role in aqueous humor outflow pathways. These findings provide new insights into the genetic architecture of POAG and potential targets for future research and therapeutic interventions. Translational Relevance: This study bridges basic genomics and clinical care by identifying and validating AFAP1 and FMNL2 as novel susceptibility genes for POAG, offering potential targets for early diagnosis and therapeutic intervention.
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.