ArticleNature communications2024
Exome-wide association study identifies KDELR3 mutations in extreme myopia.
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 15 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
15 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- 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
- The prevalence of pathogenic variants in the BMPR2 gene in patients with the idiopathic pulmonary arterial hypertension in the Russian population: sequencing data and meta-analysis.Respiratory research · 2025Pooled it
- Deep-ZOMA: A Deep Learning-Based Approach for Automated Morphometric Analysis of Zebrafish Larvae Ocular Structures.Translational vision science & technology · 2026Article
- Integrating Polygenic Risk and Ocular Phenotyping Reveals an Axial-Length-Dominant Mechanism in High and Extreme High Myopia.Ophthalmology science · 2026Article
- Determining Genetic Cause of Posterior Staphylomas in Eyes with Pathologic Myopia by Whole Exome Sequencing.Ophthalmology science · 2026Article
- A regulatory circuit operated by KDELR1 and KDELR3 fine-tunes the composition of the early secretory pathway.Cellular and molecular life sciences : CMLS · 2026Article
- Genetic Architecture of Myopia and Its Implications for Risk Stratification and Prognosis.Diagnostics (Basel, Switzerland) · 2026Review
- Integrated Transcriptomic Analysis Identifies Immune Remodeling and Prognostic Signatures in Uveal Melanoma.International journal of genomics · 2026Article
- Non-invasive low-level red-light therapy for axial length control in pediatric extreme myopia.iScience · 2025Article
- IMI-Myopia Genetics Report.Investigative ophthalmology & visual science · 2025Review
- The Advance of Single-Cell RNA Sequencing Applications in Ocular Physiology and Disease Research.Biomolecules · 2025Review
- Perspectives on Genetic and Environmental Factors in Myopia, Its Prediction, and the Future Direction of Research.Investigative ophthalmology & visual science · 2025Review
- Diagnostic challenges in high myopia: identification of sight-threatening complications and the role of artificial intelligence.Frontiers in ophthalmology · 2025Review
- The role of atropine in myopia control: insights into choroidal and scleral mechanisms.Frontiers in pharmacology · 2025Article
- Exploration of the Key Pathways and Genes Involved in Osteoarthritis Genesis: Evidence from Multiple Platforms and Real-World Validation.Journal of inflammation research · 2024Article
Corrections and comments
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Authors and funding
18 authors.
Funding
Abstract
Extreme myopia (EM), defined as a spherical equivalent (SE) ≤ -10.00 diopters (D), is one of the leading causes of sight impairment. Known EM-associated variants only explain limited risk and are inadequate for clinical decision-making. To discover risk genes, we performed a whole-exome sequencing (WES) on 449 EM individuals and 9606 controls. We find a significant excess of rare protein-truncating variants (PTVs) in EM cases, enriched in the retrograde vesicle-mediated transport pathway. Employing single-cell RNA-sequencing (scRNA-seq) and a single-cell polygenic burden score (scPBS), we pinpointed PI16 + /SFRP4+ fibroblasts as the most relevant cell type. We observed that KDELR3 is highly expressed in scleral fibroblast and involved in scleral extracellular matrix (ECM) organization. The zebrafish model revealed that kdelr3 downregulation leads to elongated ocular axial length and increased lens diameter. Together, our study provides insight into the genetics of EM in humans and highlights KDELR3's role in EM pathogenesis.
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Registered trials
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