| Title: | Quantile regression analysis reveals widespread evidence for gene-environment or gene-gene interactions in myopia development |
| Journal: | Communications Biology |
| Published: | 6 May 2019 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/31069276/ |
| DOI: | https://doi.org/10.1038/s42003-019-0387-5 |
| URL: | https://www.nature.com/articles/s42003-019-0387-5.pdf |
Publication 8878
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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.</p>
4 Authors
- Alfred Pozarickij
- Cathy Williams
- Pirro G. Hysi
- Jeremy A. Guggenheim
1 Application
| Application ID | Title |
|---|---|
| 17351 | Genetic risk factors for refractive error |
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