June 2015
Volume 56, Issue 7
Free
ARVO Annual Meeting Abstract  |   June 2015
Association between COL15A1 genetic variant and phenotypic features of primary open-angle glaucoma in the Japanese population
Author Affiliations & Notes
  • Fumihiko Mabuchi
    Ophthalmology, University of Yamanashi, Chuo-shi, Japan
  • Atsuki Kume
    Ophthalmology, University of Yamanashi, Chuo-shi, Japan
  • Yoichi Sakurada
    Ophthalmology, University of Yamanashi, Chuo-shi, Japan
  • Seigo Yoneyama
    Ophthalmology, University of Yamanashi, Chuo-shi, Japan
  • Kenji Kashiwagi
    Ophthalmology, University of Yamanashi, Chuo-shi, Japan
  • Zentaro Yamagata
    Health Sciences, University of Yamanashi, Chuo, Japan
  • Hiroyuki Iijima
    Ophthalmology, University of Yamanashi, Chuo-shi, Japan
  • Footnotes
    Commercial Relationships Fumihiko Mabuchi, None; Atsuki Kume, None; Yoichi Sakurada, None; Seigo Yoneyama, None; Kenji Kashiwagi, None; Zentaro Yamagata, None; Hiroyuki Iijima, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2015, Vol.56, 2551. doi:
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      Fumihiko Mabuchi, Atsuki Kume, Yoichi Sakurada, Seigo Yoneyama, Kenji Kashiwagi, Zentaro Yamagata, Hiroyuki Iijima; Association between COL15A1 genetic variant and phenotypic features of primary open-angle glaucoma in the Japanese population. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):2551.

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

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Abstract
 
Purpose
 

It was reported that a genetic variant of collagen, type XV, alpha 1 (COL15A1) gene, R163H, influenced the age of onset in Caucasian and African-American patients with high tension glaucoma (HTG); primary open-angle glaucoma (POAG) with elevated intraocular pressure (IOP). This study was performed to assess the association between this genetic variant and the phenotypic features in Japanese patients with POAG, including normal tension glaucoma (NTG) and HTG.

 
Methods
 

Five hundred and three Japanese patients with POAG, including 255 patients with NTG (63.5 ± 13.3 years, mean±standard deviation) and 248 patients with HTG (63.6 ± 14.3 years), and 236 control subjects without glaucoma (67.8 ± 11.1 years) were analyzed for COL15A1 genetic variant, R163H (rs2075662). The genotype and allele frequencies were compared between the patients with NTG or HTG and the control subjects. Demographic and clinical features, including the age at diagnosis of glaucoma, gender, family history of glaucoma, refractive error, maximum IOP, vertical cup-to-disc ratio, and history of glaucoma surgery, were compared between the genotypes in patients with POAG. A multiple linear regression analysis was carried out with the age at diagnosis of glaucoma as a dependent variable and gender, refractive error, maximum IOP, and the genetic variant as independent variables.

 
Results
 

There were no significant differences of the genotype and allele frequencies between the patients with NTG (AA: 8.6%, AG: 43.5%, GG: 47.9%, P=0.90; A allele: 30.4%, G allele: 69.6%, P=0.89) or HTG (AA: 5.7%, AG: 40.3%, GG: 54.0%, P=0.16; A allele: 25.8%, G allele: 74.2%, P=0.09) and the control subjects (AA: 9.7%, AG: 42.4%, GG: 47.9%; A allele: 30.9%, G allele: 69.1%). No significant differences of the phenotypic features were found among the genotypes, including the age at diagnosis of glaucoma (AA: 55.2 ± 13.8 years, AG: 57.0 ± 13.6 years, GG: 56.6 ± 14.3 years, P=0.76), in patients with POAG. Based on multiple linear regression analysis, a significant relationship was not also found between the genetic variant and the age at diagnosis of glaucoma (β = 0.014, standard error = 0.87, P = 0.72).

 
Conclusions
 

The association between the COL15A1 R163H genetic variant and the phenotypic features, including the age at diagnosis of glaucoma was not found in Japanese patients with POAG.

 
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