Genotyping HLA-DRB1 and HLA-DQB1 alleles in Japanese patients with normal tension glaucoma

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Abstract

Purpose

Normal tension glaucoma (NTG) is a subtype of glaucoma in which intraocular pressure is within the statistically normal range. NTG may be associated with an immune disorder. The aim of this study was to determine whether specific alleles in the human leukocyte antigen ( HLA)- DRB1 and HLA-DQB1 genes correlated with NTG in Japanese patients.

Methods

We genotyped the HLA-DRB1 and HLA-DQB1 alleles in 113 Japanese patients with NTG and in 184 healthy Japanese control subjects using the polymerase chain reaction-sequence-specific oligonucleotide probes (PCR-SSOP) Luminex method. We assessed the allelic diversity in patients and controls.

Results

There were no statistically significant differences in the allele frequency of HLADRB1 and HLA-DQB1 between NTG patients and control subjects, and no HLA-DRB1- HLA-DQB1 haplotypes demonstrated any significant association with NTG.

Conclusions

Our findings suggest that HLA-DRB1 and HLA-DQB1 polymorphisms have no significant effect on the development of NTG in Japanese patients.

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Most cited references 32

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Risk factors for progression of visual field abnormalities in normal-tension glaucoma.

Stephen Drance, Douglas Anderson, Michael Schulzer (2001)

To uncover risk factors for the highly variable individual rates of progression in cases of untreated normal-tension glaucoma. Visual field data were assembled from 160 subjects (160 eyes) enrolled in the collaborative normal-tension glaucoma study during intervals in which the eye under study was not receiving intraocular pressure-lowering treatment during prerandomization and postrandomization intervals. Analyses included multivariate analysis of time-dependent Cox proportional hazard, Kaplan-Meier analysis of "survival" without an increment of visual field worsening, and comparison of slopes of change in mean deviation global index over time. Most migraine occurred in women, but analysis demonstrated that gender and presence of migraine contribute separately to the overall risk. The risk ratio for migraine, adjusted for the other variables was 2.58 (P =.0058), for disk hemorrhage was 2.72 (P =.0036), and for female gender 1.85 (P =.0622). The average fall in the mean deviation index was faster in nonmigrainous women than in nonmigrainous men (P =.05). Suggesting genetic influence, Asians had a slower rate of progression (P =.005), and the few black patients enrolled had a tendency for faster progression. However, self-declared history of family with glaucoma or treated for glaucoma did not affect the rate of progression. Neither age nor the untreated level of intraocular pressure affected the rate of untreated disease progression, despite their known influence on prevalence. Whereas risk factors for prevalence help select populations within which to screen for glaucoma, the factors that affect the rate of progression help decide the expected prognosis of the individual's untreated disease and thereby the frequency of follow-up and aggressiveness of the therapy to be undertaken.

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Gametic disequilibrium measures: proceed with caution.

Brandon P. Hedrick (1987)

Five different measures of gametic disequilibrium in current use and a new one based on R. C. Lewontin's D', are examined and compared. All of them, except the measure based on Lewontin's D', are highly dependent upon allelic frequencies, including four measures that are normalized in some manner. In addition, the measures suggested by A. H. D. Brown, M. F. Feldman and E. Nevo, and T. Ohta can have negative values when there is maximum disequilibrium and have rates of decay in infinite populations that are a function of the initial gametic array. The variances were large for all the measures in samples taken from populations at equilibrium under neutrality, with the measure based on D' having the lowest variance. In these samples, three of the measures were highly correlated, D2, D (equal to the correlation coefficient when there are two alleles at each locus) and the measure X(2) of Brown et al. Using frequency-dependent measures may result in mistaken conclusions, a fact illustrated by discussion of studies inferring recombinational hot spots and the effects of population bottlenecks from disequilibrium values.

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Risk factors for open-angle glaucoma in a Japanese population: the Tajimi Study.

Yasuyuki Suzuki, Aiko Iwase, Makoto Araie … (2006)

To identify the risk factors associated with primary open-angle glaucoma (POAG) in the Tajimi Study. Population-based cross-sectional epidemiologic study. One hundred nineteen POAG patients and 2755 controls. Univariate and multivariate comparison of ocular factors and systemic factors between POAG patients and controls. Difference in factors between POAG patients and controls, factors associated with POAG patients, and their odds ratio (OR). Intraocular pressure (IOP), age, myopia, and history of hypertension differed between POAG patients and controls in univariate analyses. Multivariate analysis with logistic regression with stepwise selection of variables demonstrated that higher IOP (OR, 1.12 [95% confidence interval (CI), 1.04-1.21]), myopia (ORs, 1.85 [95% CI, 1.03-3.31] for low myopia and 2.60 [95% CI, 1.56-4.35] for moderate to high myopia), and older age (OR, 1.06 [95% CI, 1.04-1.08]) were associated with an increased risk of having POAG. Although the majority (92%) of POAG patients diagnosed in the Tajimi Study had IOP within the normal range, IOP was still identified as a significant risk factor for POAG. Together with IOP, myopia and age were significant risk factors for having POAG.

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Author and article information

Journal

Journal ID (nlm-ta): Mol Vis

Journal ID (publisher-id): MV

Title: Molecular Vision

Publisher: Molecular Vision

ISSN (Electronic): 1090-0535

Publication date Collection: 2010

Publication date (Electronic): 15 September 2010

Volume: 16

Pages: 1874-1879

Affiliations

[1 ]Department of Ophthalmology and Visual Science Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan

[2 ]Department of Legal Medicine, Shinshu University School of Medicine, Matsumoto, Nagano, Japan

[3 ]Department of Ophthalmology, University of Yamanashi, Faculty of Medicine, Yamanashi, Japan

[4 ]Department of Ophthalmology, Gifu University Graduate School of Medicine, Gifu, Japan

[5 ]Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan

[6 ]Department of Biomolecular Recognition and Ophthalmology, Yamaguchi University School of Medicine, Ube, Yamaguchi, Japan

[7 ]Department of Ophthalmology and Visual Science, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan

[8 ]Department of Ophthalmology, University of Tokyo School of Medicine, Tokyo, Japan

[9 ]Division of Ophthalmology and Visual Science, Graduated School of Medical and Dental Sciences, Niigata University, Niigata, Japan

[10 ]Department of Ophthalmology and Visual Science, Kanazawa University Graduate School of Medical Science, Kanazawa, Ishikawa, Japan

[11 ]Department of Ophthalmology and Visual Science, Graduate School of Biomedical Sciences, Hiroshima University, Hiroshima, Japan

[12 ]Department of Ophthalmology, Tajimi Municipal Hospital, Tajimi, Gifu, Japan

[13 ]Department of Ophthalmology, Hokkaido University Graduate School of Medicine, Sapporo, Japan

[14 ]Department of Genetic Information, Division of Molecular Life Science, Tokai University School of Medicine, Isehara, Kanagawa, Japan

Author notes

The first two authors contributed equally to this work

Correspondence to: Nobuhisa Mizuki, Department of Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, Kanagawa 236-0004, Japan; Phone: +81 45 787 2683; FAX: +81 45 781 9755; email: mizunobu@ 123456med.yokohama-cu.ac.jp

Article

Publisher ID: 203 Publisher ID: 2010MOLVIS0303

PMC ID: 2956698

PubMed ID: 21031025

SO-VID: 1291e6d8-1ba2-4dbf-9e64-1da269f9e6a7

License:

This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

History

Date received : 27 July 2010

Date accepted : 09 September 2010

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Genotyping HLA-DRB1 and HLA-DQB1 alleles in Japanese patients with normal tension glaucoma

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Abstract

Purpose

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Results

Conclusions

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Karger: Ophthalmology

Most cited references 32

Risk factors for progression of visual field abnormalities in normal-tension glaucoma.

Gametic disequilibrium measures: proceed with caution.

Risk factors for open-angle glaucoma in a Japanese population: the Tajimi Study.

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