Pozarickij, A, Williams, C, Hysi, PG, Guggenheim, JA, Aslam, T, Barman, SA, Barrett, JH, Bishop, P, Blows, P, Bunce, C et al (show 63 more authors)
(2019)
Quantile regression analysis reveals widespread evidence for gene-environment or gene-gene interactions in myopia development.
Communications Biology, 2 (1).
167-.
Text
Pozarickij A Comm Biol 2019.pdf - Published version Download (826kB) | Preview |
Abstract
© 2019, The Author(s). A genetic contribution to refractive error has been confirmed by the discovery of more than 150 associated variants in genome-wide association studies (GWAS). Environmental factors such as education and time outdoors also demonstrate strong associations. Currently however, the extent of gene-environment or gene-gene interactions in myopia is unknown. We tested the hypothesis that refractive error-associated variants exhibit effect size heterogeneity, a hallmark feature of genetic interactions. Of 146 variants tested, evidence of non-uniform, non-linear effects were observed for 66 (45%) at Bonferroni-corrected significance (P < 1.1 × 10−4) and 128 (88%) at nominal significance (P < 0.05). LAMA2 variant rs12193446, for example, had an effect size varying from −0.20 diopters (95% CI −0.18 to −0.23) to −0.89 diopters (95% CI −0.71 to −1.07) in different individuals. SNP effects were strongest at the phenotype extremes and weaker in emmetropes. A parsimonious explanation for these findings is that gene-environment or gene-gene interactions in myopia are pervasive.
Item Type: | Article |
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Uncontrolled Keywords: | UK Biobank Eye and Vision Consortium |
Depositing User: | Symplectic Admin |
Date Deposited: | 28 Oct 2019 10:49 |
Last Modified: | 19 Jan 2023 00:21 |
DOI: | 10.1038/s42003-019-0387-5 |
Related URLs: | |
URI: | https://livrepository.liverpool.ac.uk/id/eprint/3059430 |