SynthesisAmerican journal of human genetics2013
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
Synthesis in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 90 papers, 11 of them syntheses that pooled it.
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.
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
90 citing papers in PubMed, 11 syntheses or guidelines pooled it, 158 citations in OpenAlex.
- Multi-ancestry genome-wide association analyses of refractive error augment genetic discovery and polygenic prediction.Nature genetics · 2026Pooled it
- Genome-Wide Meta-Analysis Identifies Multiple Novel Rare Variants to Predict Common Human Infectious Diseases Risk.International journal of molecular sciences · 2023Pooled it
- Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error.Communications biology · 2020Pooled it
- Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.Nature genetics · 2018Pooled it
- Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.Nature genetics · 2018Pooled it
- Novel evidence for complement system activation in chick myopia and hyperopia models: a meta-analysis of transcriptome datasets.Scientific reports · 2017Pooled it
- Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only.Human molecular genetics · 2017Pooled it
- Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.Nature genetics · 2016Pooled it
- Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.Human genetics · 2015Pooled it
- Association between Insulin-Like Growth Factor 1 Gene rs12423791 or rs6214 Polymorphisms and High Myopia: A Meta-Analysis.PloS one · 2015Pooled it
- Education influences the association between genetic variants and refractive error: a meta-analysis of five Singapore studies.Human molecular genetics · 2014Pooled it
- Accommodation response and spherical aberration during orthokeratology.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2020Trial
- Longitudinal changes in corneal curvature and its relationship to axial length in the Correction of Myopia Evaluation Trial (COMET) cohort.Journal of optometryTrial
- Model of naturally occurring refractive error (NORE) in mice.bioRxiv : the preprint server for biology · 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
- Genome-wide association study of quantitative ocular traits, including axial length and central corneal thickness, identifies loci for refractive error in the Korean population.Genes & genomics · 2026Article
- Potential Negative Feedback between Age and Baseline Axial Length on Axial Elongation in High Myopia.Ophthalmology science · 2026Article
- Gene polymorphisms associated with corneal curvature, astigmatism and its vector components in children.Eye and vision (London, England) · 2025Article
- Select Azo Compounds Post-translationally Modulate HTRA1 Abundance and Activity Potentially through Interactions at the Trimer Interface.ACS chemical biology · 2025Article
30 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
112 authors at 20 institutions in 14 countries.
Funding
Abstract
Refractive errors are common eye disorders of public health importance worldwide. Ocular axial length (AL) is the major determinant of refraction and thus of myopia and hyperopia. We conducted a meta-analysis of genome-wide association studies for AL, combining 12,531 Europeans and 8,216 Asians. We identified eight genome-wide significant loci for AL (RSPO1, C3orf26, LAMA2, GJD2, ZNRF3, CD55, MIP, and ALPPL2) and confirmed one previously reported AL locus (ZC3H11B). Of the nine loci, five (LAMA2, GJD2, CD55, ALPPL2, and ZC3H11B) were associated with refraction in 18 independent cohorts (n = 23,591). Differential gene expression was observed for these loci in minus-lens-induced myopia mouse experiments and human ocular tissues. Two of the AL genes, RSPO1 and ZNRF3, are involved in Wnt signaling, a pathway playing a major role in the regulation of eyeball size. This study provides evidence of shared genes between AL and refraction, but importantly also suggests that these traits may have unique 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.