July 2019
Volume 60, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2019
Associations between clinical features and risk alleles in Japanese glaucoma susceptibility loci
Author Affiliations & Notes
  • Kazuki Hashimoto
    Ophthalmology, Tohoku University, Miyagi, Japan
  • Yukihiro Shiga
    Ophthalmology, Tohoku University, Miyagi, Japan
  • Koji Nishiguchi
    Ophthalmology, Tohoku University, Miyagi, Japan
  • Masahiro Miyake
    Ophthalmology, Kyoto University, Japan
  • Kenji Yamashiro
    Ophthalmology, Kyoto University, Japan
  • Yosuke Kawai
    Human Genetics, Tokyo University, Japan
  • Masao Nagasaki
    Tohoku Medical Megabank Organization, Japan
  • Toru Nakazawa
    Ophthalmology, Tohoku University, Miyagi, Japan
  • Footnotes
    Commercial Relationships   Kazuki Hashimoto, None; Yukihiro Shiga, Topcon (F); Koji Nishiguchi, Alcon (F), Santen (F), Senju (F), Wakamoto (F); Masahiro Miyake, None; Kenji Yamashiro, None; Yosuke Kawai, None; Masao Nagasaki, None; Toru Nakazawa, Daiichi Sankyo (F), Japan Tobacco (F), Kowa (F), NIDEK (F), Otsuka Pharmaceutical (F), Santen (F), Senju (F), Topcon (F), Wakamoto (F)
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 1625. doi:
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    • Get Citation

      Kazuki Hashimoto, Yukihiro Shiga, Koji Nishiguchi, Masahiro Miyake, Kenji Yamashiro, Yosuke Kawai, Masao Nagasaki, Toru Nakazawa; Associations between clinical features and risk alleles in Japanese glaucoma susceptibility loci. Invest. Ophthalmol. Vis. Sci. 2019;60(9):1625.

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      © ARVO (1962-2015); The Authors (2016-present)

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Purpose : We previously performed a genome-wide association study of primary open-angle glaucoma (POAG) in Japanese subjects, identifying 11 susceptibility loci (Shiga Y et al., Hum Mol Genet. 2018). Here, we aim to clarify clinical characteristics associated with risk alleles at these genetic loci.

Methods : This study included 471 patients with POAG who visited Tohoku University Hospital. Representative single nucleotide polymorphisms(SNPs) were selected from 11 POAG-related gene regions. A regression analysis was performed including clinical parameters (maximum intraocular pressure, central corneal thickness, ocular axial length, the visual field, and optical coherence tomography measurements) as objective variables and the number of copies of the risk allele in each SNP as an explanatory variable.

Results : The presence of a POAG risk allele in the FNDC3B gene (rs7636836, T allele) was significantly associated with maximum intraocular pressure (n = 471, β = 0.12, p < 0.01). We observed this significant association after correcting for central corneal thickness (n = 440, β = 0.11, p < 0.05). Furthermore, the number of risk alleles at rs7636836 was also significantly associated with mean deviation slope, as measured with the Humphrey Field Analyzer (n = 176, β = - 0.16, p < 0.05).

Conclusions : These results suggested that the risk variant within FNDC3B might be involved in elevation of intraocular pressure and visual field progression in Japanese POAG patients.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.


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