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Investigation of the association between SLC1A3 gene polymorphisms and normal tension glaucoma.

ABSTRACT: PURPOSE: To investigate whether the solute carrier family 1, member 3 (SLC1A3) gene, which encodes the glutamate aspartate transporter, is associated with normal tension glaucoma (NTG) in Japanese patients. METHODS: Two hundred and ninety-five Japanese patients with NTG and 518 Japanese healthy controls were recruited. Patients exhibiting comparatively early NTG onset were selected because early onset suggests that genetic factors may show stronger involvement. We genotyped 5 single-nucleotide polymorphisms (SNPs) in SLC1A3 and assessed the allelic and genotypic diversity among cases and controls. RESULTS: There were no statistically significant differences in the frequency of SLC1A3 alleles and genotypes between cases and controls. CONCLUSIONS: Our study showed no association between SLC1A3 and NTG, suggesting that the SLC1A3 gene may not be an associated factor in NTG pathogenesis.

SUBMITTER: Yasumura R

PROVIDER: S-EPMC3081802 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature

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Investigation of the association between SLC1A3 gene polymorphisms and normal tension glaucoma.

Yasumura Reiko R Meguro Akira A Ota Masao M Nomura Eiichi E Uemoto Riyo R Kashiwagi Kenji K Mabuchi Fumihiko F Iijima Hiroyuki H Kawase Kazuhide K Yamamoto Tetsuya T Nakamura Makoto M Negi Akira A Sagara Takeshi T Nishida Teruo T Inatani Masaru M Tanihara Hidenobu H Aihara Makoto M Araie Makoto M Fukuchi Takeo T Abe Haruki H Higashide Tomomi T Sugiyama Kazuhisa K Kanamoto Takashi T Kiuchi Yoshiaki Y Iwase Aiko A Ohno Shigeaki S Inoko Hidetoshi H Mizuki Nobuhisa N

Molecular vision 20110325

<h4>Purpose</h4>To investigate whether the solute carrier family 1, member 3 (SLC1A3) gene, which encodes the glutamate aspartate transporter, is associated with normal tension glaucoma (NTG) in Japanese patients.<h4>Methods</h4>Two hundred and ninety-five Japanese patients with NTG and 518 Japanese healthy controls were recruited. Patients exhibiting comparatively early NTG onset were selected because early onset suggests that genetic factors may show stronger involvement. We genotyped 5 single ...[more]

PMID: 21528001

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Project description:AIM:Polymorphisms in OPA1, the gene responsible for autosomal dominant optic atrophy, were recently found to be strongly associated with normal tension glaucoma (NTG). The aim of this study was to determine whether OPA1 polymorphisms affect the phenotype of NTG patients. METHODS:A retrospective analysis was performed of 108 well characterised NTG patients who had been genotyped for OPA1 variations, and who had previously undergone automated perimetry and Heidelberg retina tomography (HRT). 25 NTG patients had the at-risk OPA1 genotype (IVS 8 +4 C/T; +32 T/C) and 83 NTG patients did not. Differences between groups were sought in a wide range of structural, psychophysical, and demographic factors. These included sex, age at diagnosis, family history of glaucoma, history of ischaemic risk factors and vasospasm, laterality of glaucoma, presenting and highest diurnal intraocular pressure (IOP), initial cup-disc (CD) ratio, baseline visual field global indices, and optic disc parameters as measured by HRT. For a subgroup of patients with at least 5 years of follow up and 10 visual field tests, pointwise linear regression analysis (PROGRESSOR for Windows software) was applied to the visual field series. RESULTS:There was no significant difference in the two groups with respect to sex, age at diagnosis, family history of glaucoma, history of ischaemic risk factors and vasospasm, or laterality of glaucoma. The comparison of IOP, CD ratio and visual field global indices, MD and CPSD in the two groups showed no significant difference. There were no differences in the mean values for any of the HRT parameters analysed. For the subgroup of patients with at least 5 years of follow up, there was also no significant difference in the number of patients with progressing locations, the mean number of progressing locations per subject, the mean slope of the progressing locations or the mean slope for whole visual field. CONCLUSIONS:The absence of phenotypic differences in normal tension glaucoma patients with and without the OPA1 polymorphisms IVS 8 +4 C/T; +32 T/C suggest that these OPA1 polymorphisms do not underlie any major phenotypic diversity in these patients.

Dataset Information

Investigation of the association between SLC1A3 gene polymorphisms and normal tension glaucoma.

Publications

Investigation of the association between SLC1A3 gene polymorphisms and normal tension glaucoma.

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