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Association of microsatellite polymorphisms of the GPDS1 locus with normal tension glaucoma in the Japanese population.

ABSTRACT: BACKGROUND:To investigate whether the GPDS1 locus, a potential causative locus of pigment-dispersion syndrome, is associated with normal-tension glaucoma (NTG) in Japanese patients. MATERIALS AND METHODS:We used polymerase chain reaction amplification with sequence-specific primers to analyze 20 polymorphic microsatellite markers in and around the GPDS1 locus with an automated DNA analyzer and automated fragment detection by fluorescent-based technology. The DNA samples used for these analyses were obtained from ethnicity- and gender-matched patients, including 141 Japanese patients with NTG and 101 healthy controls. Patients exhibiting a comparatively early onset were selected as this suggests that genetic factors may show stronger involvement. RESULTS:One allele of D7S2462 exhibited a frequency that was significantly decreased in NTG cases compared to controls (P = 0.0013, Pc = 0.019, OR = 0.48, 95% CI = 0.30-0.75). Alleles at another six microsatellite loci were positively or negatively associated with NTG, but these associations did not retain statistical significance after Bonferroni correction (P < 0.05, Pc > 0.05). CONCLUSION:Our study showed a significant association between the GPDS1 locus and NTG, suggesting that there may be some genetic risk factor(s) in the development of NTG.

SUBMITTER: Nakamura K

PROVIDER: S-EPMC2708999 | biostudies-literature | 2009

REPOSITORIES: biostudies-literature

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Association of microsatellite polymorphisms of the GPDS1 locus with normal tension glaucoma in the Japanese population.

Nakamura Kayo K Ota Masao M Meguro Akira A Nomura Naoko N 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

Clinical ophthalmology (Auckland, N.Z.) 20090602

<h4>Background</h4>To investigate whether the GPDS1 locus, a potential causative locus of pigment-dispersion syndrome, is associated with normal-tension glaucoma (NTG) in Japanese patients.<h4>Materials and methods</h4>We used polymerase chain reaction amplification with sequence-specific primers to analyze 20 polymorphic microsatellite markers in and around the GPDS1 locus with an automated DNA analyzer and automated fragment detection by fluorescent-based technology. The DNA samples used for t ...[more]

PMID: 19668583

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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 microsatellite polymorphisms of the GPDS1 locus with normal tension glaucoma in the Japanese population.

Publications

Association of microsatellite polymorphisms of the GPDS1 locus with normal tension glaucoma in the Japanese population.

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