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Toll-like receptor 4 gene polymorphisms do not associate with normal tension glaucoma in a Korean population.

ABSTRACT: PURPOSE: To evaluate the association of Toll-like receptor 4 (TLR4) gene polymorphisms with normal tension glaucoma (NTG) in the South Korean population. METHODS: A total of 147 normal tension glaucoma patients in South Korea were recruited from April, 2007 to August, 2008. Allele, genotype, and haplotype of 8 different types of TLR4 single nucleotide polymorphisms were analyzed: rs10759930, rs1927914, rs1927911, rs12377632, rs2149356, rs11536889, rs7037117, and rs7045953. Three hundred eighty healthy, unrelated South Korean adults were enrolled as controls. RESULTS: Frequencies of the TLR4 allele did not show any statistically significant difference between normal tension glaucoma patients and the control group (p>0.00625). The same results were observed in genotype frequency analysis. In addition, no statistically significant difference was observed in the frequency of haplotypes in cases of normal tension glaucoma when compared with controls. CONCLUSIONS: TLR4 single nucleotide polymorphisms are not associated with normal tension glaucoma. Findings from this study suggest that TLR4 polymorphisms may not play an important role in NTG pathogenesis in the South Korean population.

SUBMITTER: Suh W

PROVIDER: S-EPMC3171501 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature

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Toll-like receptor 4 gene polymorphisms do not associate with normal tension glaucoma in a Korean population.

Suh Wool W Kim Sungmin S Ki Chang-Seok CS Kee Changwon C

Molecular vision 20110831

<h4>Purpose</h4>To evaluate the association of Toll-like receptor 4 (TLR4) gene polymorphisms with normal tension glaucoma (NTG) in the South Korean population.<h4>Methods</h4>A total of 147 normal tension glaucoma patients in South Korea were recruited from April, 2007 to August, 2008. Allele, genotype, and haplotype of 8 different types of TLR4 single nucleotide polymorphisms were analyzed: rs10759930, rs1927914, rs1927911, rs12377632, rs2149356, rs11536889, rs7037117, and rs7045953. Three hun ...[more]

PMID: 21921986

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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

Toll-like receptor 4 gene polymorphisms do not associate with normal tension glaucoma in a Korean population.

Publications

Toll-like receptor 4 gene polymorphisms do not associate with normal tension glaucoma in a Korean population.

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