ArticleMolecular vision2012
Association of paired box 6 with high myopia in Japanese.
Article in Molecular vision, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.
- Polymorphism in the RASGRF1 gene with high myopia: A meta-analysis.Molecular vision · 2015Pooled it
- Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study.International journal of molecular sciences · 2022Article
- Genetic and environmental factors related to the development of myopic maculopathy in Spanish patients.PloS one · 2020Article
- IMI - Myopia Genetics Report.Investigative ophthalmology & visual science · 2019Review
- Caucasian Families Exhibit Significant Linkage of Myopia to Chromosome 11p.Investigative ophthalmology & visual science · 2017Article
- Insight into the molecular genetics of myopia.Molecular vision · 2017Review
- Association between SCO2 mutation and extreme myopia in Japanese patients.Japanese journal of ophthalmology · 2016Article
- Enhanced Depth Imaging of Central Laminar Thickness in Optic Neuropathy: Comparison with Normal Eyes.Neuro-ophthalmology (Aeolus Press) · 2015Article
- Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia.Nature communications · 2015Article
- Study of association of PAX6 polymorphisms with susceptibility to high myopia in a Japanese population.Clinical ophthalmology (Auckland, N.Z.) · 2015Article
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe objective of this study was to investigate whether genetic variations in the paired box 6 (PAX6) gene are associated with high myopia in Japanese subjects.
methodsA total of 1,307 unrelated Japanese patients with high myopia (axial length ≥26 mm in both eyes) and two independent control groups were evaluated (333 cataract patients without high myopia and 923 age-matched healthy Japanese individuals). We genotyped three tag single-nucleotide polymorphisms (SNPs) in PAX6: rs2071754, rs644242, and rs3026354. These SNPs provided 100% coverage of all phase II HapMap SNPs within the PAX6 region (minor allele frequency ≥0.10; r(2) threshold: 0.90). Chi-square tests for trend and multivariable logistic regression were conducted.
resultsGenotype distributions in the three SNPs were in accordance with the Hardy-Weinberg equilibrium. After adjusting for age and sex, evaluation of cataract control showed a marginal association with high myopia in rs644242 (odds ratio [95% confidence interval]=0.69 [0.49-0.96], p=0.026), and a significant association was observed in healthy Japanese controls (0.79 [0.66-0.96], p=0.015). We pooled two control cohorts to evaluate the association. This analysis revealed a strong association between rs644242 and high myopia (0.78 [0.65-0.92], p=0.0045). The rs644242 A allele was a protective allele for development of high myopia. Subanalysis also revealed that rs644242 was significantly associated with extreme high myopia (0.78 [0.64-0.95], p=0.0165). The other two SNPs did not show a significant association with this condition.
conclusionsThe current study showed a significant association of PAX6 with high and extreme myopia in Japanese participants. The A allele of rs644242 is a protective allele.
Indexed as
Identifiers
23213273PMC3513191W1553780314What 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.