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 
Kee, CS 
Hocking, PM
Williams, C
Yip, SP 
Guggenheim, JA
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.
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
Appears in Collections:Journal/Magazine Article

Files in This Item:
File Description SizeFormat 
Huang_genome-wide_association_study.pdf864.49 kBAdobe PDFView/Open
View full-text via PolyU eLinks SFX Query
Show full item record
PIRA download icon_1.1View/Download Contents

Page view(s)

Citations as of Aug 6, 2019


Citations as of Aug 6, 2019

Google ScholarTM



Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.