Dataset Information

Association of toll-like receptor 2 gene polymorphisms with normal tension glaucoma.

ABSTRACT: PURPOSE: Toll-like receptor 2 (TLR2) is a transmembrane receptor that mediates immune responses to exogenous and endogenous ligands, and interacts with heat-shock proteins, which are reportedly involved in normal tension glaucoma (NTG). We investigated whether TLR2 polymorphisms are associated with NTG. METHODS: 200 Japanese patients with NTG and 128 healthy Japanese controls were recruited. We genotyped five single-nucleotide polymorphisms (SNPs) in the TLR2 gene and assessed the allele and haplotype diversities between cases and controls for all SNPs. RESULTS: No significant differences in the frequency of TLR2 alleles and haplotypes in the NTG cases were detected, compared with the controls. CONCLUSIONS: Our study showed no evidence for an association between TLR2 polymorphisms and NTG. TLR2 polymorphisms may not play an important role in NTG pathogenesis in the Japanese population.

SUBMITTER: Nakamura J

PROVIDER: S-EPMC2802293 | biostudies-literature | 2009

REPOSITORIES: biostudies-literature

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Association of toll-like receptor 2 gene polymorphisms with normal tension glaucoma.

Nakamura Jutaro J Meguro Akira A Ota Masao M Nomura Eiichi E Nishide Tadayuki T 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 20091226

<h4>Purpose</h4>Toll-like receptor 2 (TLR2) is a transmembrane receptor that mediates immune responses to exogenous and endogenous ligands, and interacts with heat-shock proteins, which are reportedly involved in normal tension glaucoma (NTG). We investigated whether TLR2 polymorphisms are associated with NTG.<h4>Methods</h4>200 Japanese patients with NTG and 128 healthy Japanese controls were recruited. We genotyped five single-nucleotide polymorphisms (SNPs) in the TLR2 gene and assessed the a ...[more]

PMID: 20057905

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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

Association of toll-like receptor 2 gene polymorphisms with normal tension glaucoma.

Publications

Association of toll-like receptor 2 gene polymorphisms with normal tension glaucoma.

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