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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 

Original publication

DOI

10.1038/s42003-019-0387-5

Type

Journal article

Journal

Commun Biol

Publication Date

2019

Volume

2

Keywords

Genetic interaction, Refractive errors, Adult, Aged, Educational Status, Epistasis, Genetic, Female, Gene Expression Profiling, Gene Expression Regulation, Gene-Environment Interaction, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Laminin, Male, Middle Aged, Myopia, Penetrance, Phenotype, Polymorphism, Single Nucleotide, Regression Analysis