@article{889b0c40993544528f7cbbe447f601fc,
title = "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 −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.",
keywords = "refractive error, myopia, genetics, UK Biobank",
author = "Alfred Pozarickij and Cathy Williams and Hysi, {Pirro G.} and Guggenheim, {Jeremy A.} and Tariq Aslam and Barman, {Sarah A.} and Barrett, {Jenny H.} and Peter Blows and Catey Bunce and Carare, {Roxana O.} and Usha Chakravarthy and Michelle Chan and Chua, {Sharon Y.L.} and Crabb, {David P.} and Cumberland, {Philippa M.} and Alexander Day and Parul Desai and Bal Dhillon and Dick, {Andrew D.} and Cathy Egan and Sarah Ennis and Paul Foster and Marcus Fruttiger and Gallacher, {John E.J.} and Garway-Heath, {David F.} and Jane Gibson and Dan Gore and Hammond, {Chris J.} and Alison Hardcastle and Harding, {Simon P.} and Hogg, {Ruth E.} and Keane, {Pearse A.} and Khaw, {Sir Peng T.} and Khawaja, {Anthony P.} and Gerassimos Lascaratos and Lotery, {Andrew J.} and {Mac Gillivray}, Tom and Sarah Mackie and Keith Martin and Michelle McGaughey and Bernadette McGuinness and McKay, {Gareth J.} and Martin McKibbin and Danny Mitry and Tony Moore and Morgan, {James E.} and Muthy, {Zaynah A.} and Eoin O{\textquoteright}Sullivan and David Steel and Katie Williams and {UK Biobank Eye and Vision Consortium}",
year = "2019",
month = may,
day = "6",
doi = "10.1038/s42003-019-0387-5",
language = "English",
volume = "2",
journal = "Communications Biology",
issn = "2399-3642",
publisher = "Springer Nature",
}