ArticleMolecular vision2009
AC and AG dinucleotide repeats in the PAX6 P1 promoter are associated with high myopia.
Article in Molecular vision, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 56 citations in OpenAlex.
- Polymorphism in the RASGRF1 gene with high myopia: A meta-analysis.Molecular vision · 2015Pooled it
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- STRs: Ancient Architectures of the Genome beyond the Sequence.Journal of molecular neuroscience : MN · 2021Review
- IMI - Myopia Genetics Report.Investigative ophthalmology & visual science · 2019Review
- Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families.BMC medical genetics · 2019Article
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- Disruption of retinal pigment epithelial cell properties under the exposure of cotinine.Scientific reports · 2017Article
- Insight into the molecular genetics of myopia.Molecular vision · 2017Review
- Continuous exposure to non-lethal doses of sodium iodate induces retinal pigment epithelial cell dysfunction.Scientific reports · 2016Article
- HTRA1 promoter variant differentiates polypoidal choroidal vasculopathy from exudative age-related macular degeneration.Scientific reports · 2016Article
- Inherited KIF21A and PAX6 gene mutations in a boy with congenital fibrosis of extraocular muscles and aniridia.BMC medical genetics · 2013Article
- Microsatellite tandem repeats are abundant in human promoters and are associated with regulatory elements.PloS one · 2013Article
- Association of markers at chromosome 15q14 in Chinese patients with moderate to high myopia.Molecular vision · 2012Article
- Association of paired box 6 with high myopia in Japanese.Molecular vision · 2012Article
- A novel PAX6 deletion in a Chinese family with congenital aniridia.Molecular vision · 2012Article
- Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model.Human genetics · 2011Article
- Article
- Association of vitamin D receptor gene start codon (Fok1) polymorphism with high myopia.Oman journal of ophthalmology · 2011Article
- Nature and nurture: the complex genetics of myopia and refractive error.Clinical genetics · 2011Review
- IGF-1 gene polymorphisms in Polish families with high-grade myopia.Molecular vision · 2011Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe PAX6 gene, located at the reported myopia locus MYP7 on chromosome 11p13, was postulated to be associated with myopia development. This study investigated the association of PAX6 with high myopia in 379 high myopia patients and 349 controls.
methodsHigh myopia patients had refractive errors of -6.00 diopters or greater and axial length longer than 26 mm. Control subjects had refractive errors less than -1.00 diopter and axial length shorter than 24 mm. The P1 promoter, all coding sequences, and adjacent splice-site regions of the PAX6 gene were screened in all study subjects by polymerase chain reaction and direct sequencing. PAX6 P1 promoter-luciferase constructs with variable AC and AG repeat lengths were prepared and transfected into human ARPE-19 cells prior to assaying for their transcriptional activities.
resultsNo sequence alterations in the coding or splicing regions showed an association with high myopia. Two dinucleotide repeats, (AC)(m) and (AG)(n), in the P1 promoter region were found to be highly polymorphic and significantly associated with high myopia. Higher repeat numbers were observed in high myopia patients for both (AC)(m) (empirical p = 0.013) and (AG)(n) (empirical p = 0.012) dinucleotide polymorphisms, with a 1.327-fold increased risk associated with the (AG)(n) repeat (empirical p = 0.016; 95% confidence interval: 1.059-1.663). Luciferase-reporter analysis showed elevated transcription activity with increasing individual (AC)(m) and (AG)(n) and combined (AC)(m)(AG)(n) repeat lengths.
conclusionsOur results revealed an association between high myopia and AC and AG dinucleotide repeat lengths in the PAX6 P1 promoter, indicating the involvement of PAX6 in the pathogenesis of high myopia.
Indexed as
Identifiers
19907666PMC2774452W2146006537What OpenQuestion holds
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.