Quantile regression analysis reveals widespread evidence for gene-environment or gene-gene interactions in myopia development.

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

SUBMITTER: Pozarickij A 

PROVIDER: S-EPMC6502837 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature