AC and AG Dinucleotide Repeats in the PAX6 P1 Promoter are Associated with High Myopia

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AC and AG Dinucleotide Repeats in the PAX6 P1 Promoter are Associated with High Myopia

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dc.contributor.author Ng, Tsz Kin
dc.contributor.author Lam, Ching Yan
dc.contributor.author Lam, Dennis Shun Chiu
dc.contributor.author Chiang, Sylvia Wai Yee
dc.contributor.author Tam, Pancy Oi Sin
dc.contributor.author Yam, Gary Hin-Fai
dc.contributor.author Fan, Dorothy Shu Ping
dc.contributor.author Pang, Chi Pui
dc.contributor.author Wang, Danyi
dc.contributor.author Fan, Baojian
dc.date.accessioned 2011-03-06T20:41:39Z
dc.date.issued 2009
dc.identifier.citation Ng, 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.issn 1090-0535 en_US
dc.identifier.uri http://nrs.harvard.edu/urn-3:HUL.InstRepos:4738031
dc.description.abstract Purpose: 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.iso en_US en_US
dc.publisher Molecular Vision en_US
dc.relation.isversionof http://www.molvis.org/molvis/v15/a241/ en_US
dc.relation.hasversion http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2774452/pdf/ en_US
dash.license LAA
dc.title AC and AG Dinucleotide Repeats in the PAX6 P1 Promoter are Associated with High Myopia en_US
dc.type Journal Article en_US
dc.description.version Version of Record en_US
dc.relation.journal Molecular Vision en_US
dash.depositing.author Wang, Danyi
dc.date.available 2011-03-06T20:41:39Z
dash.affiliation.other HMS^Ophthalmology en_US
dash.affiliation.other HMS^Ophthalmology en_US

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