ArticleHuman molecular genetics2022
Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia.
Article in Human molecular genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 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
17 citing papers in PubMed, 19 citations in OpenAlex.
- Increased PRSS56 expression is a causal factor and therapeutic target for human axial high myopia.Cell research · 2026Article
- Beyond Screen Time: A Measurement Framework for Behavioral Exposures in Childhood Myopia.Life (Basel, Switzerland) · 2026Review
- Gene-Environment Interaction Loci Associated with Refractive Error: SCAMPI Analysis.Ophthalmology science · 2026Article
- Genome-Wide Meta-Analysis for High Myopia Provides Insights into Disease Mechanisms and Reveals a Causal Link to Primary Open-Angle Glaucoma.Ophthalmology science · 2026Article
- Advances in the genetics of refractive errors: Contributions from the CREAM consortium.Acta ophthalmologica · 2026Review
- REECAP: Contrastive learning of retinal aging reveals genetic loci linking morphology to eye disease.medRxiv : the preprint server for health sciences · 2025Article
- Cone Rod Homeobox (Ophthalmic genetics · 2025Review
- Article
- Exploring the Research Landscape of High Myopia: Trends, Contributors, and Key Areas of Focus.Medical science monitor : international medical journal of experimental and clinical research · 2023Article
- Article
- Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing.Ophthalmology science · 2023Article
- The sleep quality- and myopia-linked PDE11A-Y727C variant impacts neural physiology by reducing catalytic activity and altering subcellular compartmentalization of the enzyme.bioRxiv : the preprint server for biology · 2023Article
- Genetic and clinical landscape ofThe British journal of ophthalmology · 2023Article
- The Role of Retinal Dysfunction in Myopia Development.Cellular and molecular neurobiology · 2023Review
- A view from the clinic - Perspectives from Dutch patients and professionals on high myopia care.Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) · 2023Article
- A multiethnic genome-wide analysis of 19,420 individuals identifies novel loci associated with axial length and shared genetic influences with refractive error and myopia.Frontiers in genetics · 2023Article
- Education interacts with genetic variants near GJD2, RBFOX1, LAMA2, KCNQ5 and LRRC4C to confer susceptibility to myopia.PLoS genetics · 2022Article
Corrections and comments
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Authors and funding
14 authors at 7 institutions in 5 countries.
Funding
Abstract
Refractive errors are associated with a range of pathological conditions, such as myopic maculopathy and glaucoma, and are highly heritable. Studies of missense and putative loss of function (pLOF) variants identified via whole exome sequencing (WES) offer the prospect of directly implicating potentially causative disease genes. We performed a genome-wide association study for refractive error in 51 624 unrelated adults, of European ancestry, aged 40-69 years from the UK and genotyped using WES. After testing 29 179 pLOF and 495 263 missense variants, 1 pLOF and 18 missense variants in 14 distinct genomic regions were taken forward for fine-mapping analysis. This yielded 19 putative causal variants of which 18 had a posterior inclusion probability >0.5. Of the 19 putative causal variants, 12 were novel discoveries. Specific variants were associated with a more myopic refractive error, while others were associated with a more hyperopic refractive error. Association with age of onset of spectacle wear (AOSW) was examined in an independent validation sample (38 100 early AOSW cases and 74 243 controls). Of 11 novel variants that could be tested, 8 (73%) showed evidence of association with AOSW status. This work identified COL4A4 and ATM as novel candidate genes associated with refractive error. In addition, novel putative causal variants were identified in the genes RASGEF1, ARMS2, BMP4, SIX6, GSDMA, GNGT2, ZNF652 and CRX. Despite these successes, the study also highlighted the limitations of community-based WES studies compared with high myopia case-control WES studies.
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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.