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dc.contributor.authorNg, Tsz Kin
dc.contributor.authorLam, Ching Yan
dc.contributor.authorLam, Dennis Shun Chiu
dc.contributor.authorChiang, Sylvia Wai Yee
dc.contributor.authorTam, Pancy Oi Sin
dc.contributor.authorYam, Gary Hin-Fai
dc.contributor.authorFan, Dorothy Shu Ping
dc.contributor.authorPang, Chi Pui
dc.contributor.authorWang, Danyi
dc.contributor.authorFan, Baojian
dc.date.accessioned2011-03-06T20:41:39Z
dc.date.issued2009
dc.identifier.citationNg, Tsz Kin, Ching Yan Lam, Dennis Shun Chiu Lam, Sylvia Wai Yee Chiang, Pancy Oi Sin Tam, Dan Yi Wang, Bao Jian Fan, Gary Hin-Fai Yam, Dorothy Shu Ping Fan, and Chi Pui Pang. 2009. AC and AG dinucleotide repeats in the PAX6 P1 promoter are associated with high myopia. Molecular Vision 15: 2239-2248.en_US
dc.identifier.issn1090-0535en_US
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:4738031
dc.description.abstractPurpose: The 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. Methods: High 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. Results: No 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. Conclusions: Our 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.en_US
dc.language.isoen_USen_US
dc.publisherMolecular Visionen_US
dc.relation.isversionofhttp://www.molvis.org/molvis/v15/a241/en_US
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC2774452/pdf/en_US
dash.licenseLAA
dc.titleAC and AG Dinucleotide Repeats in the PAX6 P1 Promoter are Associated with High Myopiaen_US
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden_US
dc.relation.journalMolecular Visionen_US
dash.depositing.authorWang, Danyi
dc.date.available2011-03-06T20:41:39Z
dash.affiliation.otherHMS^Ophthalmologyen_US
dash.affiliation.otherHMS^Ophthalmologyen_US
dash.authorsorderedfalse
dash.contributor.affiliatedWang, Danyi
dash.contributor.affiliatedFan, Baojian


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