SynthesisInvestigative ophthalmology & visual science2012
Genetic variants near PDGFRA are associated with corneal curvature in Australians.
Synthesis in Investigative ophthalmology & visual science, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 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
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 38 citations in OpenAlex.
- 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
- TRIM29-dependent AKR1B10 degradation ameliorates MASH.Science advances · 2026Article
- Association of PDGFRA polymorphisms with the risk of corneal astigmatism in a Japanese population.Scientific reports · 2023Article
- Decreased Levels of DNA Methylation in the PCDHA Gene Cluster as a Risk Factor for Early-Onset High Myopia in Young Children.Investigative ophthalmology & visual science · 2022Article
- Association of Extracellular Signal-Regulated Kinase Genes With Myopia: A Longitudinal Study of Chinese Children.Frontiers in genetics · 2021Article
- Rationale and protocol for the 7- and 8-year longitudinal assessments of eye health in a cohort of young adults in the Raine Study.BMJ open · 2020Article
- Pathogenesis and Prevention of Worsening Axial Elongation in Pathological Myopia.Clinical ophthalmology (Auckland, N.Z.) · 2020Review
- IMI - Myopia Genetics Report.Investigative ophthalmology & visual science · 2019Review
- Article
- Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci.Human genetics · 2018Article
- Pathogenesis of Keratoconus: The intriguing therapeutic potential of Prolactin-inducible protein.Progress in retinal and eye research · 2018Review
- Insight into the molecular genetics of myopia.Molecular vision · 2017Review
- Evaluation of transethnic fine mapping with population-specific and cosmopolitan imputation reference panels in diverse Asian populations.European journal of human genetics : EJHG · 2016Article
- Genome-wide association studies: applications and insights gained in Ophthalmology.Eye (London, England) · 2014Review
- Classification of posterior polymorphous corneal dystrophy as a corneal ectatic disorder following confirmation of associated significant corneal steepening.JAMA ophthalmology · 2013Article
- Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: results of a genome-wide association study.Molecular vision · 2013Article
- A genome-wide association study for corneal curvature identifies the platelet-derived growth factor receptor α gene as a quantitative trait locus for eye size in white Europeans.Molecular vision · 2013Article
- The association study betweenAdvances in ophthalmology practice and researchArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 5 institutions in 3 countries.
Funding
Abstract
purposeIrregularity in the corneal curvature (CC) is highly associated with various eye disorders such as keratoconus and myopia. The sample had limited power to find genomewide significant (5 × 10(-8)) hits but good power for replication. Thus, an attempt was made to test whether alleles in the FRAP1 and PDGFRA genes, recently found to be associated with CC in Asian populations, also influence CC in Australians of North European ancestry. Results of initial genomewide association studies (GWAS) for CC in Australians were also reported.
methodsTwo population-based cohorts of 1788 Australian twins and their families, as well as 1013 individuals from a birth cohort from Western Australia, were genotyped using genomewide arrays. Following separate individual analysis and quality control, the results from each cohort underwent meta-analysis.
resultsMeta-analysis revealed significant replication of association between rs2114039 and corneal curvature (P = 0.0045). The SNP rs2114039 near PDGFRA has been previously implicated in Asians. No SNP at the FRAP1 locus was found to be associated in our Australian samples. No SNP surpassed the genomewide significance threshold of 5 × 10(-8). The SNP with strongest association was rs2444240 (P = 3.658 × 10(-7)), which is 31 kb upstream to the TRIM29 gene.
conclusionsA significant role of the PDGFRA gene in determining corneal curvature in the Australian population was confirmed in this study, also highlighting the putative association of the TRIM29 locus with CC.
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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.