ArticleHuman molecular genetics2020
Insights into the genetic basis of retinal detachment.
Article in Human molecular genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 4 of them syntheses that pooled it.
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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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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.
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Who cites it
38 citing papers in PubMed, 4 syntheses or guidelines pooled it, 50 citations in OpenAlex.
- CPNE1: A novel therapeutic target for myopia progression - from genetic GWAS discovery to functional validation in vitro and vivo.Journal of translational medicine · 2026Pooled it
- Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation.Cell reports. Medicine · 2024Pooled it
- A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects.Nature communications · 2021Pooled it
- Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract.Communications biology · 2020Pooled it
- Identifying potential therapeutic targets for high myopia via a case-control study and Mendelian randomisation analyses of the human blood metabolome.Eye (London, England) · 2026Article
- Shared genetic architecture of psychiatric disorders and ocular diseases: Evidence from genome-wide analyses.IBRO neuroscience reports · 2026Article
- Rare heterozygous missense variants in VSX2 are associated with retinal detachment.PLoS genetics · 2026Article
- Aquaporin-1 upregulation is associated with scleral remodeling during myopia development in mice.American journal of translational research · 2026Article
- Modifiable Dietary Habits, Inflammatory Mediation, and Senile Cataract: Unraveling Causality via Mendelian Randomization.Food science & nutrition · 2025Article
- REECAP: Contrastive learning of retinal aging reveals genetic loci linking morphology to eye disease.medRxiv : the preprint server for health sciences · 2025Article
- Adult genomic medicine: lessons from a multisite study of 2700 patients.Genome medicine · 2025Article
- Connecting the dots: the role of genetics in posterior vitreous detachment.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2025Review
- Whole Exome Sequencing Study Uncovers Novel Candidate Genes and Protein-Coding Variants for Cataract.Investigative ophthalmology & visual science · 2025Article
- Association Between Omega-3 Polyunsaturated Fatty Acids and Myopia: Results From the Two-Sample and Multi-Tissue Genomic Mendelian Randomization Study and KNHANES.Food science & nutrition · 2025Article
- Instrumenting Carotid Sonography Biomarkers and Polygenic Risk Score As a Novel Screening Approach for Retinal Detachment.Translational vision science & technology · 2025Article
- Article
- Exploring genotype-phenotype correlations in pathological myopia: a case report.Frontiers in medicine · 2025Article
- A genome-wide scan of non-coding RNAs and enhancers for refractive error and myopia.Human genetics · 2025Article
- Lactobacillaceae-mediated eye-brain-gut axis regulates high myopia-related anxiety: from the perspective of predictive, preventive, and personalized medicine.The EPMA journal · 2024Article
- First Application of Whole Genome Sequencing in Myelinated Retinal Nerve Fibers (MRNF).Physiological research · 2024Article
Corrections and comments
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Authors and funding
12 authors at 7 institutions in 2 countries.
Funding
Abstract
Retinal detachment (RD) is a serious and common condition, but genetic studies to date have been hampered by the small size of the assembled cohorts. In the UK Biobank data set, where RD was ascertained by self-report or hospital records, genetic correlations between RD and high myopia or cataract operation were, respectively, 0.46 (SE = 0.08) and 0.44 (SE = 0.07). These correlations are consistent with known epidemiological associations. Through meta-analysis of genome-wide association studies using UK Biobank RD cases (N = 3 977) and two cohorts, each comprising ~1 000 clinically ascertained rhegmatogenous RD patients, we uncovered 11 genome-wide significant association signals. These are near or within ZC3H11B, BMP3, COL22A1, DLG5, PLCE1, EFEMP2, TYR, FAT3, TRIM29, COL2A1 and LOXL1. Replication in the 23andMe data set, where RD is self-reported by participants, firmly establishes six RD risk loci: FAT3, COL22A1, TYR, BMP3, ZC3H11B and PLCE1. Based on the genetic associations with eye traits described to date, the first two specifically impact risk of a RD, whereas the last four point to shared aetiologies with macular condition, myopia and glaucoma. Fine-mapping prioritized the lead common missense variant (TYR S192Y) as causal variant at the TYR locus and a small set of credible causal variants at the FAT3 locus. The larger study size presented here, enabled by resources linked to health records or self-report, provides novel insights into RD aetiology and underlying pathological pathways.
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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.