ArticlePloS one2011
PAX6 haplotypes are associated with high myopia in Han chinese.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 52 citations in OpenAlex.
- Association of high myopia with crystallin beta A4 (CRYBA4) gene polymorphisms in the linkage-identified MYP6 locus.PloS one · 2012Pooled it
- Visual development cohort study on refractive parameters among preschool children in Sucheng district.BMC ophthalmology · 2025Article
- Cassia polysaccharides can regulate the effect of low PAX6 expression on the function of ARPE-19 cells through the Wnt/β-catenin pathway.Molecular vision · 2025Article
- MiR-204-5p may regulate oxidative stress in myopia.Scientific reports · 2024Article
- Association of Polymorphisms in ZFHX1B and PAX6 With Anisometropia in Chinese Children: The Hong Kong Children Eye Genetics Study.Investigative ophthalmology & visual science · 2023Article
- STRs: Ancient Architectures of the Genome beyond the Sequence.Journal of molecular neuroscience : MN · 2021Review
- The myopia susceptibility locus vasoactive intestinal peptide receptor 2 (VIPR2) contains variants with opposite effects.Scientific reports · 2019Article
- Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families.BMC medical genetics · 2019Article
- Caucasian Families Exhibit Significant Linkage of Myopia to Chromosome 11p.Investigative ophthalmology & visual science · 2017Article
- The role of microRNAs in myopia.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2017Review
- Genetic Association Study ofBioMed research international · 2017Article
- Insight into the molecular genetics of myopia.Molecular vision · 2017Review
- Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia.Nature communications · 2015Article
- Association between genetic polymorphisms and carotid atherosclerosis in patients treated with radiotherapy for nasopharyngeal carcinoma.Radiation oncology (London, England) · 2015Article
- Study of association of PAX6 polymorphisms with susceptibility to high myopia in a Japanese population.Clinical ophthalmology (Auckland, N.Z.) · 2015Article
- Genetic association between germline JAK2 polymorphisms and myeloproliferative neoplasms in Hong Kong Chinese population: a case-control study.BMC genetics · 2014Article
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- Association of paired box 6 with high myopia in Japanese.Molecular vision · 2012Article
- Association of markers at chromosome 15q14 in Chinese patients with moderate to high myopia.Molecular vision · 2012Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe paired box 6 (PAX6) gene is considered as a master gene for eye development. Linkage of myopia to the PAX6 region on chromosome 11p13 was shown in several studies, but the results for association between myopia and PAX6 were inconsistent so far. METHODOLOGY/PRINCIPAL
findingsWe genotyped 16 single nucleotide polymorphisms (SNPs) in the PAX6 gene and its regulatory regions in an initial study for 300 high myopia cases and 300 controls (Group 1), and successfully replicated the positive results with another independent group of 299 high myopia cases and 299 controls (Group 2). Five SNPs were genotyped in the replication study. The spherical equivalent of subjects with high myopia was ≤-8.0 dioptres. The PLINK package was used for genetic data analysis. No association was found between each of the SNPs and high myopia. However, exhaustive sliding-window haplotype analysis highlighted an important role for rs12421026 because haplotypes containing this SNP were found to be associated with high myopia. The most significant results were given by the 4-SNP haplotype window consisting of rs2071754, rs3026393, rs1506 and rs12421026 (P = 3.54×10(-10), 4.06×10(-11) and 1.56×10(-18) for Group 1, Group 2 and Combined Group, respectively) and the 3-SNP haplotype window composed of rs3026393, rs1506 and rs12421026 (P = 5.48×10(-10), 7.93×10(-12) and 6.28×10(-23) for the three respective groups). The results remained significant after correction for multiple comparisons by permutations. The associated haplotyes found in a previous study were also successfully replicated in this study. CONCLUSIONS/SIGNIFICANCE: PAX6 haplotypes are associated with susceptibility to the development of high myopia in Chinese. The PAX6 locus plays a role in high myopia.
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