Myopia is the most common eye condition worldwide and its prevalence is increasing. While changes in environment, such as time spent outdoors, have driven myopia rates, within populations myopia is highly heritable. Genes are estimated to explain up to 80% of the variance in refractive error. Initial attempts to identify myopia genes relied on family studies using linkage analysis or candidate gene approaches with limited progress. More genome-wide association study (GWAS) approaches have taken over, ultimately resulting in the identification of hundreds of genes for refractive error and myopia, providing new insights into its molecular machinery. These studies showed myopia is a complex trait, with many genetic variants of small effect influencing retinal signaling, eye growth and the normal process of emmetropization. The genetic architecture and its molecular mechanisms are still to be clarified and while genetic risk score prediction models are improving, this knowledge must be expanded to have impact on clinical practice.

Additional Metadata
Keywords Candidate genes, Epigenetics, Genetics, GWAS, GxE interactions, Linkage, Mendelian randomization, Myopia, Pathway analysis, Refractive error, Whole exome sequencing, Whole genome sequencing
ISBN 9789811384912
Persistent URL dx.doi.org/10.1007/978-981-13-8491-2_5, hdl.handle.net/1765/127472
Citation
Tedja, M, Haarman, A.E.G. (Annechien E.G.), Meester-Smoor, M.A, Verhoeven, V.J.M, Klaver, C.C.W, & MacGregor, S. (Stuart). (2019). The genetics of myopia. In Updates on Myopia: A Clinical Perspective (pp. 95–132). doi:10.1007/978-981-13-8491-2_5