April 2010
Volume 51, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2010
Association Between the Common Variants on Chromosome 2 and Primary Open Angle Glaucoma in the Japanese Population
Author Affiliations & Notes
  • F. Mabuchi
    Ophthalmology,
    University of Yamanashi, Chuo, Japan
  • Y. Sakurada
    Ophthalmology,
    University of Yamanashi, Chuo, Japan
  • K. Kashiwagi
    Ophthalmology,
    University of Yamanashi, Chuo, Japan
  • Z. Yamagata
    Health Sciences,
    University of Yamanashi, Chuo, Japan
  • H. Iijima
    Ophthalmology,
    University of Yamanashi, Chuo, Japan
  • S. Tsukahara
    Ophthalmology,
    University of Yamanashi, Chuo, Japan
  • Footnotes
    Commercial Relationships  F. Mabuchi, None; Y. Sakurada, None; K. Kashiwagi, None; Z. Yamagata, None; H. Iijima, None; S. Tsukahara, None.
  • Footnotes
    Support  Grant-in-Aid for Scientific Research(C) from the Ministry of Education, Culture, Sports, Science and Technology
Investigative Ophthalmology & Visual Science April 2010, Vol.51, 2177. doi:
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      F. Mabuchi, Y. Sakurada, K. Kashiwagi, Z. Yamagata, H. Iijima, S. Tsukahara; Association Between the Common Variants on Chromosome 2 and Primary Open Angle Glaucoma in the Japanese Population. Invest. Ophthalmol. Vis. Sci. 2010;51(13):2177.

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

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Abstract

Purpose: : It was reported that the common variants (rs1533428 and rs12994401) on chromosome 2p were associated with primary open angle glaucoma (POAG) in the Afro-Caribbean population of Barbados. This study was performed to assess whether these polymorphisms were associated with POAG in the Japanese population.

Methods: : Four hundred and twenty-five Japanese patients with POAG, including normal tension glaucoma (NTG, n = 213) and high tension glaucoma (HTG, n = 212) and 191 control subjects without glaucoma were analyzed for polymorphisms of rs1533428 and rs12994401 on the chromosome 2p. The mean age at the time of blood sampling was 64.0 ± 13.7 years (mean ± SD) in patients with NTG, 62.9 ± 14.8 years in patients with POAG and 65.7 ± 11.4 years in the control subjects. The genotype and allele frequencies were compared between the patients with NTG or HTG and the control subjects.

Results: : No significant differences were observed (P > 0.05, Chi-square test or Fisher’s exact test) regarding rs1533428 (TT: 16.0%, CT: 46.9%, CC: 37.1%, T allele: 39.4%, C allele: 60.6% for patients with NTG; TT: 15.6%, CT: 43.4%, CC: 41.0%, T allele: 37.3%, C allele: 62.7% for patients with HTG; TT: 15.7%, CT: 44.0%, CC: 40.3%, T allele: 37.7%, C allele: 62.3% for control subjects) and rs12994401 (TT: 12.2%, CT: 44.6%, CC: 43.2%, T allele: 34.5%, C allele: 65.5% for patients with NTG; TT: 11.8%, CT: 48.6%, CC: 39.6%, T allele: 36.1%, C allele: 63.9% for patients with HTG; TT: 8.4%, CT: 52.9%, CC: 38.7%, T allele: 34.8%, C allele: 65.2% for control subjects) genotype and allele frequencies between the patients with NTG or HTG and the control subjects. In addition, no significant differences (P > 0.05, Chi-square test) were observed in the haplotype frequencies of rs1533428 and rs12994401 between the patients with NTG or HTG and the control subjects.

Conclusions: : These two polymorphisms are markers of nearby susceptible gene polymorphism responsible for POAG in the Afro-Caribbean population, and this locus is considered not to be associated with POAG in the Japanese population.

Keywords: genetics 
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