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

Research output: Contribution to journalArticle

Original languageEnglish
Article number167 (2019)
Number of pages8
JournalCommunications Biology
Volume2
DOIs
DateAccepted/In press - 15 Mar 2019
DatePublished (current) - 6 May 2019

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.

    Research areas

  • refractive error, myopia, genetics, UK Biobank

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    Rights statement: This is the final published version of the article (version of record). It first appeared online via Springer Nature at https://www.nature.com/articles/s42003-019-0387-5. Please refer to any applicable terms of use of the publisher.

    Final published version, 807 KB, PDF document

    Licence: CC BY

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