Please use this identifier to cite or link to this item:
http://hdl.handle.net/10397/80665
DC Field | Value | Language |
---|---|---|
dc.contributor | School of Optometry | - |
dc.contributor | Department of Health Technology and Informatics | - |
dc.creator | Huang, Y | - |
dc.creator | Kee, CS | - |
dc.creator | Hocking, PM | - |
dc.creator | Williams, C | - |
dc.creator | Yip, SP | - |
dc.creator | Guggenheim, JA | - |
dc.creator | UK Biobank Eye and Vision Consortium and The CREAM Consortium | - |
dc.date.accessioned | 2019-04-23T08:16:49Z | - |
dc.date.available | 2019-04-23T08:16:49Z | - |
dc.identifier.uri | http://hdl.handle.net/10397/80665 | - |
dc.language.iso | en | en_US |
dc.publisher | Association for Research in Vision and Ophthalmology | en_US |
dc.rights | Copyright 2019 The Authors. This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. | en_US |
dc.rights | The following publication Huang Y, Kee C-s, Hocking PM, Williams C, Yip SP, Guggenheim JA. A genome-wide association study for susceptibility to visual experienceinduced myopia. Invest Ophthalmol Vis Sci. 2019;60:559–569 is available at https://doi.org/10.1167/iovs.18-25597 | en_US |
dc.title | A genome-wide association study for susceptibility to visual experience-induced myopia | en_US |
dc.type | Journal/Magazine Article | en_US |
dc.identifier.spage | 559 | en_US |
dc.identifier.epage | 569 | en_US |
dc.identifier.volume | 60 | en_US |
dc.identifier.issue | 2 | en_US |
dc.identifier.doi | 10.1167/iovs.18-25597 | en_US |
dcterms.abstract | Purpose: The rapid rise in prevalence over recent decades and high heritability of myopia suggest a role for gene-environment (G × E) interactions in myopia susceptibility. Few such G × E interactions have been discovered to date. We aimed to test the hypothesis that genetic analysis of susceptibility to visual experience-induced myopia in an animal model would identify novel G × E interaction loci. | - |
dcterms.abstract | Methods: Chicks aged 7 days (n = 987) were monocularly deprived of form vision for 4 days. A genome-wide association study (GWAS) was carried out in the 20% of chicks most susceptible and least susceptible to form deprivation (n = 380). There were 304,963 genetic markers tested for association with the degree of induced axial elongation in treated versus control eyes (A-scan ultrasonography). A GWAS candidate region was examined in the following three human cohorts: CREAM consortium (n = 44,192), UK Biobank (n = 95,505), and Avon Longitudinal Study of Parents and Children (ALSPAC; n = 4989). | - |
dcterms.abstract | Results: A locus encompassing the genes PIK3CG and PRKAR2B was genome-wide significantly associated with myopia susceptibility in chicks (lead variant rs317386235, P = 9.54e-08). In CREAM and UK Biobank GWAS datasets, PIK3CG and PRKAR2B were enriched for strongly-associated markers (meta-analysis lead variant rs117909394, P = 1.7e-07). In ALSPAC participants, rs117909394 had an age-dependent association with refractive error (-0.22 diopters [D] change over 8 years, P = 5.2e-04) and nearby variant rs17153745 showed evidence of a G × E interaction with time spent reading (effect size -0.23 D, P = 0.022). | - |
dcterms.abstract | Conclusions: This work identified the PIK3CG-PRKAR2B locus as a mediator of susceptibility to visually induced myopia in chicks and suggests a role for this locus in conferring susceptibility to myopia in human cohorts. | - |
dcterms.accessRights | open access | en_US |
dcterms.bibliographicCitation | Investigative ophthalmology and visual science, 2019, v. 60, no. 2, p. 559-569 | - |
dcterms.isPartOf | Investigative ophthalmology and visual science | - |
dcterms.issued | 2019 | - |
dc.identifier.scopus | 2-s2.0-85061116928 | - |
dc.identifier.pmid | 30721303 | - |
dc.identifier.eissn | 1552-5783 | en_US |
dc.description.validate | 201904 bcma | en_US |
dc.description.oa | Version of Record | en_US |
dc.identifier.FolderNumber | OA_IR/PIRA | en_US |
dc.description.pubStatus | Published | en_US |
dc.description.oaCategory | CC | en_US |
Appears in Collections: | Journal/Magazine Article |
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Huang_genome-wide_association_study.pdf | 864.49 kB | Adobe PDF | View/Open |
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