%0 Journal Article
%T Quantile regression analysis reveals widespread evidence for gene-environment or gene-gene interactions in myopia development
%J -
%D 2019
%R https://doi.org/10.1038/s42003-019-0387-5
%X 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£¿¡Á£¿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
%U https://www.nature.com/articles/s42003-019-0387-5