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Lack of Association between Normal-tension Glaucoma and Intron 8 Polymorphisms in the Gene Causing Autosomal Dominant Optic Atrophy, OPA1, in Japan

¹ Ophthalmology, Gifu University School of Medici, Gifu-shi, Japan
² Laval University Hospital (CHUL) Research Center, Québec, PQ, Canada
³ InSite Vision, SF, CA, United States

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.

Grant Identification: a research grant 12771022 from Ministry of Education of Japan

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

© 2003, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. For permission to reproduce any part of this abstract, contact the ARVO Office at arvo{at}arvo.org.