Please use this identifier to cite or link to this item: http://hdl.handle.net/10397/80665
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.
URI: http://hdl.handle.net/10397/80665
EISSN: 1552-5783
DOI: 10.1167/iovs.18-25597
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