SynthesisInvestigative ophthalmology & visual science2013
Identification of a candidate gene for astigmatism.
Synthesis in Investigative ophthalmology & visual science, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 3 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
18 citing papers in PubMed, 3 syntheses or guidelines pooled it, 38 citations in OpenAlex.
- New Insights on the Regulatory Gene Network Disturbed in Central Areolar Choroidal Dystrophy-Beyond Classical Gene Candidates.Frontiers in genetics · 2022Pooled it
- A genome-wide association study of corneal astigmatism: The CREAM Consortium.Molecular vision · 2018Pooled it
- Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.Human genetics · 2015Pooled it
- Gene polymorphisms associated with corneal curvature, astigmatism and its vector components in children.Eye and vision (London, England) · 2025Article
- Astigmatic Blur in Partial Visual Field Exposure Induces Astigmatism Compensation in Developing Chick Eyes.Investigative ophthalmology & visual science · 2025Article
- The Peripheral Defocus Designed Spectacle Lenses Might Increase Astigmatism in Myopic Children.Translational vision science & technology · 2025Article
- Association of PDGFRA polymorphisms with the risk of corneal astigmatism in a Japanese population.Scientific reports · 2023Article
- Mutational investigation of 17 causative genes in a cohort of 113 families with nonsyndromic early-onset high myopia in northwestern China.Molecular genetics and genomics : MGG · 2023Article
- Age- and gender-related characteristics of astigmatism in a myopic population.Frontiers in medicine · 2022Article
- Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci.Human genetics · 2018Article
- The prevalence of vision impairment and refractive error in 3654 first year students at Tianjin Medical University.International journal of ophthalmology · 2018Article
- Refractive, corneal and ocular residual astigmatism: distribution in a German population and age-dependency - the Gutenberg health study.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2017Observational
- Detecting Long-Term Balancing Selection Using Allele Frequency Correlation.Molecular biology and evolution · 2017Article
- Evaluation of transethnic fine mapping with population-specific and cosmopolitan imputation reference panels in diverse Asian populations.European journal of human genetics : EJHG · 2016Article
- A role for VAX2 in correct retinal function revealed by a novel genomic deletion at 2p13.3 causing distal Renal Tubular Acidosis: case report.BMC medical genetics · 2015Article
- On the analysis of a repeated measure design in genome-wide association analysis.International journal of environmental research and public health · 2014Article
- Preoperative corneal astigmatism among adult patients with cataract in Northern Nigeria.Indian journal of ophthalmology · 2014Article
- Astigmatism and myopia in Tohono O'odham Native American children.Optometry and vision science : official publication of the American Academy of Optometry · 2013Article
Corrections and comments
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Authors and funding
17 authors at 7 institutions in 4 countries.
Funding
Abstract
purposeAstigmatism is a common refractive error that reduces vision, where the curvature and refractive power of the cornea in one meridian are less than those of the perpendicular axis. It is a complex trait likely to be influenced by both genetic and environmental factors. Twin studies of astigmatism have found approximately 60% of phenotypic variance is explained by genetic factors. This study aimed to identify susceptibility loci for astigmatism.
methodsWe performed a meta-analysis of seven genome-wide association studies that included 22,100 individuals of European descent, where astigmatism was defined as the number of diopters of cylinder prescription, using fixed effect inverse variance-weighted methods.
resultsA susceptibility locus was identified with lead single nucleotide polymorphism rs3771395 on chromosome 2p13.3 (meta-analysis, P = 1.97 × 10(-7)) in the VAX2 gene. VAX2 plays an important role in the development of the dorsoventral axis of the eye. Animal studies have shown a gradient in astigmatism along the vertical plane, with corresponding changes in refraction, particularly in the ventral field.
conclusionsThis finding advances the understanding of refractive error, and provides new potential pathways to be evaluated with regard to the development of astigmatism.
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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.