Gene-environment Interaction in Spherical Equivalent and Myopia: An Evidence-based Review

References

• Holden BA, Fricke TR, Wilson DA, et al. Global prevalence of myopia and high myopia and temporal trends from 2000 through 2050. Ophthalmology. 2016;123(5):1036-1042. doi: 10.1016/j.ophtha.2016.01.006.
   PubMedGoogle Scholar
• Lin Y, Ding Y, Jiang D, et al. Genome-wide Association of genetic variants with refraction, axial length, and corneal curvature: a longitudinal study of Chinese schoolchildren. Front Genet. 2020;11:276. doi:10.3389/fgene.2020.00276.
   PubMed Web of Science ®Google Scholar
• Wojciechowski R. Nature and nurture: the complex genetics of myopia and refractive error. CLIN Genet. 2010;79(4):301–320. doi:10.1111/j.1399-0004.2010.01592.x.
   PubMed Web of Science ®Google Scholar
• Pan CW, Qiu QX, Qian DJ, et al. Iris colour in relation to myopia among Chinese school-aged children. Ophthalmic Physiol Opt. 2018;38(1):48–55. doi:10.1111/opo.12427.
   PubMed Web of Science ®Google Scholar
• Boomsma D, Busjahn A, Peltonen L. Classical twin studies and beyond. Nat Rev Genet. 2002;3(11):872–882. doi:10.1038/nrg932.
   PubMed Web of Science ®Google Scholar
• Uitterlinden A. An introduction to genome-wide association studies: GWAS for dummies. Semin Reprod Med. 2016;34(4):196–204. doi:10.1055/s-0036-1585406.
   PubMed Web of Science ®Google Scholar
• Yang C, Wan X, Liu J, Ng M. Introduction to statistical methods for integrative data analysis in genome-wide association studies. 2016.Big Data Analytics in Genomics pp 3-23. (book chapter) doi:10.1007/978-3-319-41279-5_1
   Google Scholar
• Cai XB, Shen SR, Chen DF, Zhang Q, Jin ZB. An overview of myopia genetics. Exp Eye Res. 2019;188:107778. doi:10.1016/j.exer.2019.107778.
   PubMed Web of Science ®Google Scholar
• Li Q, Wojciechowski R, Simpson CL, et al. Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium. Hum Genet. 2015;134(2):131–146. doi:10.1007/s00439-014-1500-y.
   PubMed Web of Science ®Google Scholar
• Shah RL, Li Q, Zhao W, et al. A genome-wide association study of corneal astigmatism: the CREAM consortium. Mol Vis. 2018;24:127–142.
   PubMed Web of Science ®Google Scholar
• Wong YL, Hysi P, Cheung G, et al. Correction: genetic variants linked to myopic macular degeneration in persons with high myopia: CREAM consortium. Plos One. 2019;14(10):e223942.
   Web of Science ®Google Scholar
• Chen Y, Wang W, Han X, Yan W, He M. What Twin Studies Have Taught Us About Myopia. Asia Pac J Ophthalmol (Phila). 2016;5(6):411–414. doi:10.1097/APO.0000000000000238.
   PubMed Web of Science ®Google Scholar
• Dirani M, Chamberlain M, Garoufalis P, Chen C, Guymer RH, Baird PN. Refractive errors in twin studies. Twin Res Hum Genet. 2006;9(4):566–572. doi:10.1375/twin.9.4.566.
   PubMed Web of Science ®Google Scholar
• He M, Ge J, Zheng Y, Huang W, Zeng J. The Guangzhou twin project. Twin Res Hum genet. 2006;9(6):753–757. doi:10.1375/twin.9.6.753.
   PubMed Web of Science ®Google Scholar
• Dirani M, Chamberlain M, Shekar SN, et al. Heritability of refractive error and ocular biometrics: the Genes in Myopia (GEM) twin study. Invest Ophthalmol Vis Sci. 2006;47(11):4756–4761. doi:10.1167/iovs.06-0270.
   PubMed Web of Science ®Google Scholar
• Hammond CJ, Snieder H, Gilbert CE, Spector TD. Genes and environment in refractive error: the twin eye study. Invest Ophthalmol Vis Sci. 2001;42:1232–1236.
   PubMed Web of Science ®Google Scholar
• Chen CJ, Cohen BH, Diamond EL. Genetic and environmental effects on the development of myopia in Chinese twin children. Ophthalmic Paediatr Genet. 1985;6:353–359.
   PubMedGoogle Scholar
• Morgan IG, Rose KA. Myopia: is the nature-nurture debate finally over? Clin Exp Optom. 2019;102(1):3–17. doi:10.1111/cxo.12845.
   PubMed Web of Science ®Google Scholar
• Ramamurthy D, Chua SYL, Saw SM. A review of environmental risk factors for myopia during early life, childhood and adolescence. Clin Exp Optom. 2016;98(6):497–506. doi:10.1111/cxo.12346.
   Web of Science ®Google Scholar
• Daubs JG. Environmental factors in the epidemiology of malignant myopia. Am J Optometry Physiol Opt. 1982;59(3):271. doi:10.1097/00006324-198203000-00012.
   PubMedGoogle Scholar
• Mohan M, Pakrasi S, Garg SP. The role of environmental factors and hereditary predisposition in the causation of low myopia. Acta Ophthalmol Scand Suppl. 2010;185:54–57.
   Google Scholar
• Tedja MS, Haarman A, Meester-Smoor MA, et al. IMI - Myopia Genetics Report. Invest Ophthalmol Vis Sci. 2019;60(3):M89–M105. doi:10.1167/iovs.18-25965.
   PubMed Web of Science ®Google Scholar
• Morgan IG. The biological basis of myopic refractive error. Clin Exp OPTOM. 2003;86(5):276–288. doi:10.1111/j.1444-0938.2003.tb03123.x.
   PubMedGoogle Scholar
• Baird PN, Schäche M, Dirani M. The GEnes in Myopia (GEM) study in understanding the aetiology of refractive errors. Prog Retin Eye Res. 2010;29(6):520–542. doi:10.1016/j.preteyeres.2010.05.004.
   PubMed Web of Science ®Google Scholar
• Wojciechowski R. Nature and nurture: the complex genetics of myopia and refractive error. Clin Genet. 2011;79:301–320.
   PubMed Web of Science ®Google Scholar
• Verhoeven VJM, Buitendijk GHS, Rivadeneira F, et al. Education influences the role of genetics in myopia. Eur J Epidemiol. 2013;28(12):973–980. doi:10.1007/s10654-013-9856-1.
   PubMed Web of Science ®Google Scholar
• Ottman R. Gene–environment interaction: definitions and study designs. Prev Med. 1995;25(6):764–770. doi:10.1006/pmed.1996.0117.
   Web of Science ®Google Scholar
• DeWan AT. Gene-gene and gene-environment interactions. Methods Mol Biol. 2018;1793::89–110.
   PubMedGoogle Scholar
• Lumbreras B, Porta M, Márquez S, Pollán M, Parker LA, Hernández-Aguado I. QUADOMICS: an adaptation of the Quality Assessment of Diagnostic Accuracy Assessment (QUADAS) for the evaluation of the methodological quality of studies on the diagnostic accuracy of ‘-omics’-based technologies. Clin Biochem. 2008;41(16–17):1316–1325. doi:10.1016/j.clinbiochem.2008.06.018.
   PubMed Web of Science ®Google Scholar
• DerSimonian R, Laird N. Meta-analysis in clinical trials. Control Clin Trials. 1986;7(3):177–188. doi:10.1016/0197-2456(86)90046-2.
   PubMedGoogle Scholar
• Fan Q, Verhoeven VJM, Wojciechowski R, et al. Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error. Nat Commun. 2016;7(11008). doi:10.1038/ncomms11008.
   Google Scholar
• Wojciechowski R, Yee SS, Simpson CL, Bailey-Wilson JE, Stambolian D. Matrix metalloproteinases and educational attainment in refractive error: evidence of gene-environment interactions in the age-related eye disease study. Ophthalmology. 2013;120(2):298–305. doi:10.1016/j.ophtha.2012.07.078.
   PubMed Web of Science ®Google Scholar
• Pozarickij A, Williams C, Hysi PG, Guggenheim JA. Quantile regression analysis reveals widespread evidence for gene-environment or gene-gene interactions in myopia development. Commun Biol. 2019;2:167. doi:10.1038/s42003-019-0387-5.
   PubMed Web of Science ®Google Scholar
• Fan Q, Guo X, Tideman JWL, et al. Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: the CREAM consortium. Sci Rep-UK. 2016;6:25853. doi: 10.1038/srep25853.
   Google Scholar
• Huang Y, Kee CS, Hocking PM, Williams C, Yip SP, Guggenheim JA. A genome-wide association study for susceptibility to visual experience-induced myopia. Invest Ophthalmol Vis Sci. 2019;60(2):559–569. Doi:10.1167/iovs.18-25597.
   PubMed Web of Science ®Google Scholar
• Pozarickij A, Williams C, Guggenheim JA, And TUBE. Non-additive (dominance) effects of genetic variants associated with refractive error and myopia. Mol Genet Genomics. 2020;295(4):843–853. doi:10.1007/s00438-020-01666-w.
   PubMed Web of Science ®Google Scholar
• Tkatchenko AV, Tkatchenko TV, Guggenheim JA, et al. APLP2 regulates refractive error and myopia development in mice and humans. Plos Genet. 2015;11(8):e1005432. doi:10.1371/journal.pgen.1005432.
   PubMed Web of Science ®Google Scholar
• Enthoven CA, LodewijkTideman JW, Polling JR, et al. Interaction between lifestyle and genetic susceptibility in myopia: the Generation R study. Eur J Epidemiol. 2019;34(8):777–784. doi:10.1007/s10654-019-00512-7.
   PubMed Web of Science ®Google Scholar
• Fan Q, Wojciechowski R, Ikram MK, et al. Education influences the association between genetic variants and refractive error: a meta-analysis of five Singapore studies. Hum Mol genet. 2014;23(2):546–554. doi:10.1093/hmg/ddt431.
   PubMed Web of Science ®Google Scholar
• Ritchie MD, Hahn LW, Moore JH. Power of multifactor dimensionality reduction for detecting gene-gene interactions in the presence of genotyping error, missing data, phenocopy, and genetic heterogeneity. Genet Epidemiol. 2003;24(2):150–157. doi:10.1002/gepi.10218.
   PubMed Web of Science ®Google Scholar
• Yang R-C. Analysis of linear and non-linear genotype ?— environment interaction. Front Genet. 2014;5. doi:10.3389/fgene.2014.00227.
   Google Scholar
• Tedja MS, Wojciechowski R, Hysi PG, et al. Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error. Nat Genet. 2018;50(6):834–848. doi:10.1038/s41588-018-0127-7.
   PubMed Web of Science ®Google Scholar
• Tideman JWL, Polling JR, Hofman A, Jaddoe VW, Mackenbach JP, Klaver CC. Environmental factors explain socioeconomic prevalence differences in myopia in 6-year-old children. Br J Ophthalmol. 2018;102(2):243-247. doi: 10.1136/bjophthalmol-2017-310292.
   Google Scholar
• Huang HM, Chang ST, Wu PC. The association between near work activities and myopia in children—a systematic review and meta-analysis. Plos One. 2015;10:e140419.
   PubMed Web of Science ®Google Scholar
• Wenbo L, Congxia B, Hui L. Genetic and environmental-genetic interaction rules for the myopia based on a family exposed to risk from a myopic environment. Gene. 2017;626:305–308. doi:10.1016/j.gene.2017.05.051.
   PubMed Web of Science ®Google Scholar
• Zhang X, Wang Y, Pan C, et al. Effect of genetic-environmental interaction on Chinese childhood myopia. J Ophthalmol. 2020;2020:6308289. doi:10.1155/2020/6308289.
   PubMed Web of Science ®Google Scholar
• Ding X, Hu Y, Guo X, Guo X, Morgan I, He M. Possible causes of discordance in refraction in monozygotic twins: nearwork, time outdoors and stochastic variation. Invest Ophthalmol Vis Sci. 2018;59(13):5349–5354. doi:10.1167/iovs.18-24526.
   PubMed Web of Science ®Google Scholar
• Lyhne N, Sjolie AK, Kyvik KO, Green A. The importance of genes and environment for ocular refraction and its determiners: a population based study among 20-45 year old twins. Br J Ophthalmol. 2001;85(12):1470–1476. doi:10.1136/bjo.85.12.1470.
   PubMed Web of Science ®Google Scholar
• Stone RA, Lin T, Laties AM, Iuvone PM. Retinal dopamine and form-deprivation myopia. Proc Natl Acad Sci USA. 1989;86(2):704–706. doi:10.1073/pnas.86.2.704.
   PubMed Web of Science ®Google Scholar
• Rose KA, Morgan IG, Ip J, Kifley A, Mitchell P. Outdoor activity reduces the prevalence of myopia in children. Ophthalmology. 2008;115(8):1279–1285. doi:10.1016/j.ophtha.2007.12.019.
   PubMed Web of Science ®Google Scholar
• Cheng C, Schache M, Ikram MK, et al. Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. Am J Human Genet. 2013;93(2):264–277. doi:10.1016/j.ajhg.2013.06.016.
   PubMed Web of Science ®Google Scholar