July 2019
Volume 60, Issue 9
Free
ARVO Annual Meeting Abstract  |   July 2019
Genetic risk score is associated with retinal nerve fiber layer thickness and severe glaucoma in Japanese normal-tension glaucoma patients
Author Affiliations & Notes
  • Yukihiro Shiga
    Ophthalmology, Tohoku University, Sendai, Japan
  • Kazuki Hashimoto
    Ophthalmology, Tohoku University, Sendai, Japan
  • Kota Sato
    Ophthalmology, Tohoku University, Sendai, Japan
  • Koji Nishiguchi
    Ophthalmology, Tohoku University, Sendai, Japan
  • Toru Nakazawa
    Ophthalmology, Tohoku University, Sendai, Japan
  • Footnotes
    Commercial Relationships   Yukihiro Shiga, Topcon Corporation (F); Kazuki Hashimoto, None; Kota Sato, Daiichi Sankyo Co., Ltd. (F), Japan Tobacco Inc. (F), Kowa Pharmaceutical Co., Ltd. (F), ROHTO Pharmaceutical Co., Ltd. (F), Santen Pharmaceutical Co., Ltd. (F), Senju Pharmaceutical Co., Ltd. (F), Topcon Corporation (F), Wakamoto Co., Ltd. (F); Koji Nishiguchi, Santen Pharmaceutical Co., Ltd. (F), SENJU Pharmaceutical Co.,Ltd (F), Wakamoto Co., Ltd. (F); Toru Nakazawa, Alcon Japan Ltd. (F), Daiichi Sankyo Co., Ltd. (F), Japan Tobacco Inc. (F), Kowa Company, Ltd. (F), Nidek CO., LTD. (F), Otsuka Pharmaceutical Co., Ltd. (F), ROHTO Pharmaceutical Co., Ltd. (F), Santen Pharmaceutical Co., Ltd. (F), SENJU Pharmaceutical Co.,Ltd (F), Topcon Corporation. (F), WAKAMOTO PHARMACEUTICAL CO., LTD. (F)
  • Footnotes
    Support  The Japanese Society for the Promotion of Science (KAKENHI; grant numbers 24249083 and 26293372). An unrestricted grant from SENJU Pharmaceutical Co., Ltd. (Osaka, Japan) and TOPCON Co., Ltd. (Tokyo, Japan).
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 1605. doi:
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    • Get Citation

      Yukihiro Shiga, Kazuki Hashimoto, Kota Sato, Koji Nishiguchi, Toru Nakazawa; Genetic risk score is associated with retinal nerve fiber layer thickness and severe glaucoma in Japanese normal-tension glaucoma patients. Invest. Ophthalmol. Vis. Sci. 2019;60(9):1605.

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

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Abstract

Purpose : To investigate the association between genetic risk score (GRS) and the presence of normal-tension glaucoma (NTG; defined by peak intraocular pressure < 22 mmHg) in Japanese patients, and to determine whether GRS was related to retinal nerve fiber layer (RNFL) thickness and mean deviation (MD).

Methods : This study comprised 455 control subjects and 384 NTG patients. Weighted and unweighted GRS scores were constructed based on findings in 3 SNPs previously reported to be associated with primary open-angle glaucoma, including rs2157719 (CDKN2BAS-1), rs33912345 (SIX6) and rs9913911 (GAS7), in Japanese subjects (Shiga Y et al. PLoS ONE, 2018). Peripapillary RNFL thickness was measured with optical coherence tomography (3D OCT 2000, Topcon, Tokyo, Japan). Visual field parameters, including MD, were assessed with the 24-2 test program of the Humphrey Field Analyzer, with the worse eye of each subject being used for the analysis. Linear and logistic regression analyses were used to examine the association of GRS with NTG and RNFL thickness.

Results : GRS was associated with NTG (odds ratio (OR): 1.60, 95% CI: 1.23-2.09, p < 0.001) after adjusting for age and gender. In addition, GRS was significantly associated with a decrease in total peripapillary RNFL thickness of 1.53 μm (p = 0.03). When the peripapillary RNFL was further divided into superior, inferior, nasal and temporal quadrants and assessed separately, GRS was associated with a decrease in thickness of 2.61 μm (p = 0.02) superiorly, but not in other quadrants (p = 0.06 – 0.86). Furthermore, GRS was significantly associated with the presence of severe visual field damage (defined as MD ≤ -20 dB) (OR: 1.39, 95% CI: 1.07 – 1.80, p < 0.01) after adjusting for age. We obtained similar results for weighted and unweighted GRS.

Conclusions : These results suggest that an aggregation of multiple glaucoma-associated SNPs can reveal NTG patients with increased susceptibility to optic nerve head degeneration.

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

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