May 2003
Volume 44, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2003
Lack of Association between Normal-tension Glaucoma and Intron 8 Polymorphisms in the Gene Causing Autosomal Dominant Optic Atrophy, OPA1, in Japan
Author Affiliations & Notes
  • M. Sato
    Ophthalmology, Gifu University School of Medici, Gifu-shi, Japan
  • K. Kawase
    Ophthalmology, Gifu University School of Medici, Gifu-shi, Japan
  • T. Yamamoto
    Ophthalmology, Gifu University School of Medici, Gifu-shi, Japan
  • S. Dubo
    Laval University Hospital (CHUL) Research Center, Québec, PQ, Canada
  • E. Eric Shink
    Laval University Hospital (CHUL) Research Center, Québec, PQ, Canada
  • E. Si
    InSite Vision, SF, CA, United States
  • V. Raymond
    InSite Vision, SF, CA, United States
  • Footnotes
    Commercial Relationships  M. Sato, None; K. Kawase, None; T. Yamamoto, None; S. Dubo, None; E. Eric Shink, None; E. Si, InSite Vision F; V. Raymond, None.
  • Footnotes
    Support  a research grant 12771022 from Ministry of Education of Japan
Investigative Ophthalmology & Visual Science May 2003, Vol.44, 1124. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to Subscribers Only
      Sign In or Create an Account ×
    • Get Citation

      M. Sato, K. Kawase, T. Yamamoto, S. Dubo, E. Eric Shink, E. Si, V. Raymond; Lack of Association between Normal-tension Glaucoma and Intron 8 Polymorphisms in the Gene Causing Autosomal Dominant Optic Atrophy, OPA1, in Japan . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1124.

      Download citation file:


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

      ×
  • Supplements
Abstract

Abstract: : Purpose:Normal-tension glaucoma (NTG) is characterized by an optic nerve degeneration without elevated intra ocular pressures. OPA1, the gene causing autosomal dominant optic atrophy was suggested as candidate for NTG and two single nucleotide polymorphisms (SNPs) at position +4 and +32 in intron 8 (IVS8) of OPA1 were found associated with NTG in two reports using British patients (Aung et al, Hum Genet (2002) 110: 52 and 513). Our study was designed to assess such association in a large sample of Japanese NTG patients. Methods: 337 NTG patients and 90 normal controls (matched for age) were recruited in Japan. This sample led to power higher than 80% to find association at the 5% level under conditions reported by Aung et al. NTG criteria were: characteristic optic neuropathy and/or visual field defects, maximal intra ocular pressures < 22 mmHg in both eyes and grade III/IV gonioscopy. Both SNPs were screened by direct genomic sequencing using primers located in exon 8 and intron 8. Results: 134 NTG patients were males, 203 females. The IVS8+4 CT SNP was detected in 13/337 (3.9%) NTG and in 4/90 controls (4.4%). The IVS8+32 TC SNP was detected in 117/308 (38.0%) NTG and in 27/80 (33.8%) controls while 29 patients and 10 normals were CC homozygotes. The distribution of persons carrying both SNPs, IVS8+4 C/T and IVS8+32 T/C, was 12/337 (3.6%) in the affected group and 3/90 (3.3%) in the control group. Chi-square tests led to p values ranging from 0.485 to 0.800, suggesting no statistical differences between cases and controls. Conclusion: The two OPA1 SNPs, IVS8+4C/T and IVS8+32T/C, showed similar distribution frequencies in the NTG and control groups. Our data do not support that the OPA1 gene is associated with NTG in the Japanese population. CR: F, Support: a research grant 12771022 from Ministry of Education of Japan

Keywords: genetics • clinical (human) or epidemiologic studies: pre 
×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×