ArticleTranslational vision science & technology2026
Mitochondria-Related Gene BDH1 Implicated in Myopia Risk via Methylation-Regulated Expression: An Integrative Summary-Data Mendelian Randomization Study.
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
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: The purpose of this study was to prioritize mitochondria-related causal genes (MRGs) involved in myopia by integrating MRGs-related methylation quantitative trait loci (mQTL), expression quantitative trait loci (eQTL), and protein quantitative trait loci (pQTL) data with myopia genome-wide association study (GWAS) data. Methods: UK Biobank data were utilized for discovery, and FinnGen data for validation. Summary Data-based Mendelian Randomization (SMR) assessed associations between blood-derived MRG-related QTLs and myopia risk, followed by colocalization analysis to evaluate shared genetic etiology. Multi-omics integration linked methylation, expression, and disease risk. Results: Our integrative SMR analysis of MRGs prioritized BDH1 as the sole robust candidate. We identified a significant association between increased methylation at a promoter-proximal site (cg02569554) and reduced BDH1 expression (odds ratio [OR] = 0.522, 95% confidence interval [CI] = 0.425-0.641, false discovery rate [FDR] = 8.79 × 10⁻⁹). Although other nominal associations were observed, they did not survive multiple testing correction and are thus considered exploratory. Conclusions: This study provides integrative genetic evidence that BDH1 may contribute to myopia through methylation-regulated expression. However, the findings remain preliminary due to limited cross-layer consistency and require replication and functional validation. Translational Relevance: This study prioritizes BDH1 as a mitochondria-related gene that may influence myopia risk via methylation and expression changes, providing a candidate target for mechanistic research 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.