June 2013
Volume 54, Issue 15
Free
ARVO Annual Meeting Abstract  |   June 2013
Association between primary open-angle glaucoma and genetic variants associated with normal tension glaucoma
Author Affiliations & Notes
  • Fumihiko Mabuchi
    Ophthalmology, University of Yamanashi, Chuo, Japan
  • Yoichi Sakurada
    Ophthalmology, University of Yamanashi, Chuo, Japan
  • Kenji Kashiwagi
    Ophthalmology, University of Yamanashi, Chuo, Japan
  • Zentaro Yamagata
    Health Sciences, University of Yamanashi, Chuo, Japan
  • Hiroyuki Iijima
    Ophthalmology, University of Yamanashi, Chuo, Japan
  • Footnotes
    Commercial Relationships Fumihiko Mabuchi, None; Yoichi Sakurada, None; Kenji Kashiwagi, None; Zentaro Yamagata, None; Hiroyuki Iijima, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2013, Vol.54, 6227. doi:
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      Fumihiko Mabuchi, Yoichi Sakurada, Kenji Kashiwagi, Zentaro Yamagata, Hiroyuki Iijima; Association between primary open-angle glaucoma and genetic variants associated with normal tension glaucoma. Invest. Ophthalmol. Vis. Sci. 2013;54(15):6227.

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

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Abstract

Purpose: To assess the association between primary open-angle glaucoma (POAG), including normal tension glaucoma (NTG) and high tension glaucoma (HTG), and the genetic variants associated with NTG.

Methods: One hundred and ninety three Japanese patients with NTG, 190 patients with HTG, and 184 control subjects without glaucoma were analyzed for 6 genetic variants associated with NTG; rs3213787 (near gene: SRBD1), rs735860 (ELOVL5), rs1063192 (CDKN2B/CDKN2B-AS1), rs10483727 (SIX1/SIX6), rs1900004 (ATOH7), and rs10451941 (OPA1). The risk (odds ratio) of NTG for each genetic variant was calculated using logistic regression model. The number of genetic variants with risk allele and products of the odds ratios of analyzed genetic variants for each patient were compared between the patients with NTG or HTG and the control subjects.

Results: The number of genetic variants with risk allele in patients with NTG (4.0 ± 1.1, mean ± standard deviation) and HTG (3.8 ± 1.1) were significantly higher (P < 0.0001 and P = 0.0058 respectively, Student’s t-test) than that (3.5 ± 1.1) in the control subjects. Similarly, products of the odds ratios in patients with NTG (8.7 ± 4.9) and HTG (7.9 ± 4.7) were significantly higher (P < 0.0001 and P = 0.0039 respectively, Student’s t-test) than that (6.6 ± 4.4) in the control subjects.

Conclusions: These data support that POAG is a complex disorder by multiple genetic factors, and suggest that not only genetic variants associated with intraocular pressure (IOP) elevation (IOP-related genetic factors), but also genetic variants associated with NTG (non-IOP-related genetic factors) contribute to the pathogenesis of HTG.

Keywords: 539 genetics  
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