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The COL1A1 gene and high myopia susceptibility in Japanese

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Abstract

The collagen type Ι alpha Ι (COL1A1) gene encodes the extracellular matrix component, collagen, and resides in candidate MYP5 for high myopia on the chromosome 17q22–q23.3. This locus has recently been implicated in playing an important role in the pathogenesis of experimental myopia. We investigated the association of disruptions of COL1A1 gene with high myopia by analyzing the frequency of ten SNPs in a Japanese population of 330 subjects with high myopia of −9.25 D or less and 330 randomized controls without high myopia. Two SNPs (rs2075555 and rs2269336) were significantly associated with high myopia (P < 0.05, Pc < 0.1). Two different haplotype blocks in COL1A1 were observed by the pair-wise linkage disequilibrium between the SNPs. The frequency of GGC/GGC diplotype constructed by the three SNPs (rs2075555, rs2269336, rs1107946) was significantly high (OR = 1.6) and associated with high myopia (P = 0.028, Pc< 0.084). Together our results provide the first evidence for COL1A1 as a gene associated with high myopia.

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Acknowledgments

This work was supported by the Health and Labour Sciences Research Grants in Japan and the Johnson & Johnson K.K. Vison Care Company.

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Authors and Affiliations

  1. Department of Ophthalmology, Yokohama City University School of Medicine, Yokohama, Kanagawa, Japan

    Yumiko Inamori & Nobuhisa Mizuki

  2. Department of Legal Medicine, Shinshu University School of Medicine, 3-1-1 Asahi, Matusmoto, Nagano, 390-8621, Japan

    Masao Ota

  3. Department of Basic Medical Science and Molecular Medicine, Tokai University School of Medicine, Isehara, Kanagawa, Japan

    Hidetoshi Inoko, Ritsuko Nishizaki, Tomoko Shiota, Jeewon Mok & Akira Oka

  4. Okada Eye Clinic, Yokohama, Kanagawa, Japan

    Eiichi Okada, Ritsuko Nishizaki & Tomoko Shiota

  5. Laboratory of Ophthalmology & Visual Science, Catholic Research Institutes of Medical Science College of Medicine, The Catholic University of Korea, Seoul, South Korea

    Jeewon Mok

  6. Department of Ophthalmology, Hokkaido University School of Medicine, Sapporo, Hokkaido, Japan

    Shigeaki Ohno

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  1. Yumiko Inamori
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  2. Masao Ota
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  3. Hidetoshi Inoko
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  4. Eiichi Okada
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  5. Ritsuko Nishizaki
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  6. Tomoko Shiota
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  7. Jeewon Mok
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  8. Akira Oka
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  9. Shigeaki Ohno
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  10. Nobuhisa Mizuki
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Correspondence to Masao Ota.

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Inamori, Y., Ota, M., Inoko, H. et al. The COL1A1 gene and high myopia susceptibility in Japanese. Hum Genet 122, 151–157 (2007). https://doi.org/10.1007/s00439-007-0388-1

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  • DOI: https://doi.org/10.1007/s00439-007-0388-1

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