Abstract
Background
The purpose of this study was to determine whether genetic polymorphisms affecting high-density lipoprotein (HDL)-associated antioxidant enzymes were associated with open-angle glaucoma (OAG). The rationale for this study was that the modification of low-density lipoprotein (LDL) by HDL prevents oxidative modification which can then cause dysfunction of endothelial cells.
Methods
We studied 284 normal Japanese controls and 555 Japanese patients with OAG, including primary open-angle glaucoma (POAG) and normal-tension glaucoma (NTG). The possible associations of polymorphisms of PON1/L55M, PON1/Q192R, PON2/S311C, and PAF-AH/V279F with OAG were investigated. We compared the genotype distributions and allele frequency in controls and patient groups. The age at diagnosis, intraocular pressure (IOP) at diagnosis, and visual field score at diagnosis were examined for association with polymorphisms.
Results
The distributions of genotypes and allele frequency for the four polymorphisms were not significantly different between any patient group and controls. In NTG patients, 55M carriers of the PON1 gene were significantly older at diagnosis than 55M non-carriers (P=0.001). The IOP at diagnosis was significantly higher in glaucoma patients carrying 192R in the PON1 gene than in patients not carrying 192R (P=0.006). No significant differences were seen in clinical characteristics of OAG patients in relation to other polymorphisms.
Conclusion
PON1 gene polymorphisms may influence the features of Japanese patients with OAG.
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Acknowledgements
We would like to thank the clinical investigators (The Glaucoma Gene Research Group) who provided and cared for study patients. The Glaucoma Gene Research Group: Drs. Tomihiko Tanino, Itaru Kimura, Karin Ishikawa, and Daijiro Kurosaka (Keio University School of Medicine, Tokyo, Japan); Drs. Kana Takahashi, Motohiko Seimiya and Akiko Miyazawa (Department of Ophthalmology and Visual Sciences, Tohoku University Graduate School of Medicine, Sendai, Japan); Dr. Kenji Nakamoto (Department of Ophthalmology, Tokyo Metropolitan Police Hospital, Tokyo, Japan); Drs. Kotaro Suzuki, Ryosuke Kawamura and Hidenao Ideta (Ideta Eye Hospital, Kumamoto, Japan); Dr. Takuro Fujimaki (Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan); Dr. Ryo Asaoka (Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan); Drs. Takahisa Koga and Hidenobu Tanihara (Department of Ophthalmology & Visual Science, Kumamoto University Graduate School of Medical Sciences, Kumamoto, Japan); Drs. Takashi Kanamoto and Hiromu Mishima (Department of Ophthalmology and Visual Science, Graduate School of Medical Sciences, Hiroshima University, Hiroshima, Japan); Dr. Haruki Abe (Division of Ophthalmology and Visual Science, Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan) We would like to thank Dr. Makoto Nagano in the Research Department of R&D Center, BML for excellent technical assistance with the Invader assay. This study was supported by a Research on Eye and Ear Sciences grant from the Ministry of Health, Labour and Welfare of Japan.
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Inagaki, Y., Mashima, Y., Funayama, T. et al. Paraoxonase 1 gene polymorphisms influence clinical features of open-angle glaucoma. Graefe's Arch Clin Exp Ophthalmo 244, 984–990 (2006). https://doi.org/10.1007/s00417-005-0200-7
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DOI: https://doi.org/10.1007/s00417-005-0200-7