Back to results list
Please use this identifier to cite or link to this item:
|Title:||A genome-wide association study for susceptibility to visual experience-induced myopia||Authors:||Huang, Y
UK Biobank Eye and Vision Consortium and The CREAM Consortium
|Issue Date:||2019||Publisher:||Association for Research in Vision and Ophthalmology||Source:||Investigative ophthalmology and visual science, 2019, v. 60, no. 2, p. 559-569 How to cite?||Journal:||Investigative ophthalmology and visual science||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.
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).
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).
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.
|URI:||http://hdl.handle.net/10397/80665||EISSN:||1552-5783||DOI:||10.1167/iovs.18-25597||Rights:||Copyright 2019 The Authors. This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
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
|Appears in Collections:||Journal/Magazine Article|
Show full item record
Files in This Item:
|Huang_genome-wide_association_study.pdf||864.49 kB||Adobe PDF||View/Open|
Citations as of Aug 6, 2019
Citations as of Aug 6, 2019
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.