The development of myopia is influenced by multiple environmental and genetic factors. A third component, epigenetics, may shed light on some of the relationships between environmental and genetic factors. Epigenetics is defined as the study of modulations of gene activity that can be transmitted over cell divisions without involving mutation of the DNA sequence. Methylation is one of the main mechanisms by which gene expression is decreased. In the context of myopia, the study of epigenetic mechanisms also contributes to the understanding of the involvement of candidate genetic variants. The analysis of metabolic and signalling pathways associated with ocular development enables discussion of the biological significance associated with these candidate genes. A better understanding of epigenetic mechanisms would allow individual risk estimations for myopia and probably targeting of therapeutic interventions at a population level. Measuring the level of DNA methylation at candidate gene sites could be used to monitor the effectiveness of myopia prevention measures such as reducing near work and increasing outdoor activity. More specifically, one could consider activating the methylation of myopia promoter genes or, on the contrary, inhibiting the methylation of myopia repressor genes. Finally, the control of metabolic and signalling pathways could be considered by targeting, for example, the regulation of the G protein signalling pathway (RGS 2) with the expression of the adenosine A2a receptor (AdoRs).
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