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Genes Involved in the Development of Myopia

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Pathologic Myopia

Abstract

Both environmental factors and genetic factors have been implicated in the development of myopia. Family studies and twin studies have revealed the heritability of myopia since the 1960s. To identify the causative genes for myopia, common myopia (>−6D) and high myopia (≤−6D) have been investigated in familial studies, twin studies, case–control studies, and cohort studies. In familial studies and twin studies, linkage analysis using microsatellite markers has identified 19 loci for myopia: MYP1 to MYP19 (Table 2.1). Although many genes in these loci were evaluated as candidate genes for myopia or high myopia, most genes were found not to be involved in the pathogenesis of myopia or high myopia. After the completion of the Human Genome Project, many researchers performed genome-wide association studies (GWAS) in case–control cohorts and population-based cohorts. The allele frequency in single nucleotide polymorphisms (SNPs) was compared between cases of myopia or high myopia and controls in case–control studies, and the association of the allele to refractive error or axial length was evaluated in quantitative trait locus (QTL) analysis. In spite of these intensive studies, genes for myopia have not been determined until recently.

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Authors and Affiliations

  1. Department of Ophthalmology and Visual Science, Kyoto University Graduate School of Medicine, 54 Kawahara, Shogoin, Sakyo, Kyoto, 606-8507, Japan

    Kenji Yamashiro MD, PhD & Nagahisa Yoshimura MD, PhD

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  1. Kenji Yamashiro MD, PhD
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  2. Nagahisa Yoshimura MD, PhD
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Correspondence to Kenji Yamashiro MD, PhD .

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Editors and Affiliations

  1. Vitreous, Retina, Macula Consultants of New York, New York, New York, USA

    Richard F. Spaide

  2. Department of Ophthalmology and Visual Science, Tokyo Medical and Dental University, Tokyo, Japan

    Kyoko Ohno-Matsui

  3. Department of Clinical Ophthalmology, Columbia University School of Medicine, LuEsther T. Mertz Retinal Research Center, New York, New York, USA

    Lawrence A. Yannuzzi

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Yamashiro, K., Yoshimura, N. (2014). Genes Involved in the Development of Myopia. In: Spaide, R., Ohno-Matsui, K., Yannuzzi, L. (eds) Pathologic Myopia. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-8338-0_2

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  • DOI: https://doi.org/10.1007/978-1-4614-8338-0_2

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