ArticleNature communications2024
QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration.
Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
What it found
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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.
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Who cites it
40 citing papers in PubMed, 39 citations in OpenAlex.
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- Revisiting retinal and macular degeneration in the genomics era.Nature reviews. Genetics · 2026Review
- Enhanced chromatin compaction is associated with de novo expression of a nuclear microprotein, global loss of H3 acetylation and local transcriptional changes in retinal rod photoreceptors.Research square · 2026Article
- Next-generation sequencing reveals aqueous MicroRNA and piRNA signatures in age-related macular degeneration and polypoidal choroidal vasculopathy.Molecular and cellular biochemistry · 2026Article
- Genome-Wide Association Study for Glucocorticoid-Induced Ocular Hypertension.Ophthalmology science · 2026Article
- Blood DNA methylation at AMD candidate loci in discordant monozygotic twins.Scientific reports · 2026Article
- Single-cell analysis of the epigenome and 3D chromatin architecture in the human retina.Science advances · 2026Article
- Re: Bai et al: Investigating the Shared Genetic Architecture of 3 Age-Related Ocular Disorders.Ophthalmology science · 2026Article
- An siRNA targetingMolecular therapy. Nucleic acids · 2026Article
- Selective chr21 homolog silencing reveals polymorphisms influence the epigenetic silencing and functional dosage of RWDD2B.American journal of human genetics · 2026Article
- From Genetic Diagnosis to Therapeutic Implementation in Retinal Diseases: Translational Advances and Persistent Bottlenecks.Biomedicines · 2026Review
- Oxidative stress-related genes in Kawasaki disease: a multi-omics Mendelian randomization study.Italian journal of pediatrics · 2026Article
- Article
- Reactive astrocyte-related pathogenic genes in Parkinson's disease: A multi-omics Mendelian randomization study.Journal of Parkinson's disease · 2026Article
- Genome-Wide Association Study for Glucocorticoid-Induced Ocular Hypertension.medRxiv : the preprint server for health sciences · 2026Article
- Purine Metabolism-Related Pathogenic Genes in Trigeminal Neuralgia: A Multiomics Mendelian Randomization Study.Pain research & management · 2026Article
- The Inflammation-Thrombosis Genetic Axis in Abdominal Aortic Aneurysm: A Shared Roadmap to Precision Medicine.TH open : companion journal to thrombosis and haemostasis · 2026Review
- HTRA1/lncRNA HTRA1-AS1 dominates in age-related macular degeneration reticular pseudodrusen genetic risk with no complement involvement.Nature communications · 2025Article
- Selective chr21 homolog silencing reveals polymorphisms influence the epigenetic silencing and functional dosage of RWDD2B.bioRxiv : the preprint server for biology · 2025Article
- Pathogenic genes associated with immune-related genes in graves' disease: a multi-omics Mendelian randomization analysis.Scientific reports · 2025Article
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Authors and funding
17 authors at 5 institutions in 2 countries.
Funding
Abstract
DNA methylation provides a crucial epigenetic mark linking genetic variations to environmental influence. We have analyzed array-based DNA methylation profiles of 160 human retinas with co-measured RNA-seq and >8 million genetic variants, uncovering sites of genetic regulation in cis (37,453 methylation quantitative trait loci and 12,505 expression quantitative trait loci) and 13,747 DNA methylation loci affecting gene expression, with over one-third specific to the retina. Methylation and expression quantitative trait loci show non-random distribution and enrichment of biological processes related to synapse, mitochondria, and catabolism. Summary data-based Mendelian randomization and colocalization analyses identify 87 target genes where methylation and gene-expression changes likely mediate the genotype effect on age-related macular degeneration. Integrated pathway analysis reveals epigenetic regulation of immune response and metabolism including the glutathione pathway and glycolysis. Our study thus defines key roles of genetic variations driving methylation changes, prioritizes epigenetic control of gene expression, and suggests frameworks for regulation of macular degeneration pathology by genotype-environment interaction in retina.
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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.