Pozarickij, Alfred, Williams, Cathy, Hysi, Pirro G., Guggenheim, Jeremy  ORCID: https://orcid.org/0000-0001-5164-340X and Consortium, UK Biobank Eye and Vision
2019.
Quantile regression analysis reveals widespread evidence for gene-environment or gene-gene interactions in myopia development.
Communications Biology
2
, 167.
10.1038/s42003-019-0387-5
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Abstract
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 |
|---|---|
| Date Type: | Publication |
| Status: | Published |
| Schools: | Professional Services > Advanced Research Computing @ Cardiff (ARCCA) Schools > Optometry and Vision Sciences |
| Publisher: | Nature Research |
| ISSN: | 2399-3642 |
| Funders: | National Eye Research Centre, NIHR |
| Date of First Compliant Deposit: | 5 April 2019 |
| Date of Acceptance: | 15 March 2019 |
| Last Modified: | 16 Jul 2024 09:47 |
| URI: | https://orca.cardiff.ac.uk/id/eprint/121524 |
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