Investigation of the association between the GLC3A locus and normal tension glaucoma in Japanese patients by microsatellite analysis

Abstract

M Kamio1*, A Meguro1*, M Ota2, N Nomura1, K Kashiwagi3, F Mabuchi3, H Iijima3, K Kawase4, T Yamamoto4, M Nakamura5, A Negi5, T Sagara6, T Nishida6, M Inatani7, H Tanihara7, M Aihara8, M Araie8, T Fukuchi9, H Abe9, T Higashide10, K Sugiyama10, T Kanamoto11, Y Kiuchi11, A Iwase12, S Ohno13, H Inoko14, N Mizuki11Department of Ophthalmology, Yokohama City University School of Medicine, Yokohama, Kanagawa, Japan; 2Department of Legal Medicine, Shinshu University School of Medicine, Matsumoto, Nagano, Japan; 3Department of Ophthalmology, University of Yamanashi, Faculty of Medicine, Yamanashi, Japan; 4Department of Ophthalmology, Gifu University Graduate School of Medicine, Gifu, Japan; 5Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan; 6Department of Ophthalmology, Yamaguchi University Graduate School of Medicine, Ube, Yamaguchi, Japan; 7Department of Ophthalmology and Visual Science, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan; 8Department of Ophthalmology, University of Tokyo School of Medicine, Tokyo, Japan; 9Division of Ophthalmology and Visual Science, Graduated School of Medical and Dental Sciences, Niigata University, Niigata, Japan; 10Department of Ophthalmology and Visual Science, Kanazawa University Graduate School of Medical Science, Kanazawa, Ishikawa, Japan; 11Department of Ophthalmology and Visual Science, Graduate School of Biomedical Sciences, Hiroshima University, Hiroshima, Japan; 12Department of Ophthalmology, Tajimi Municipal Hospital, Tajimi, Gifu, Japan; 13Department of Ophthalmology, Hokkaido University School of Medicine, Sapporo, Japan; 14Department of Genetic Information, Division of Molecular Life Science, Tokai University School of Medicine, Isehara, Kanagawa, Japan; *These authors contributed equally to this reportPurpose: To investigate whether the GLC3A locus harboring the CYP1B1 gene is associated with normal tension glaucoma (NTG) in Japanese patients.Materials and Methods: One hundred forty-two Japanese patients with NTG and 101 Japanese healthy controls were recruited. Patients exhibiting a comparatively early onset were selected as this suggests that genetic factors may show stronger involvement. Genotyping and assessment of allelic diversity was performed on 13 highly polymorphic microsatellite markers in and around the GLC3A locus.Results: There were decreased frequencies of the 444 allele of D2S0416i and the 258 allele of D2S0425i in cases compared to controls (P = 0.022 and P = 0.034, respectively). However, this statistical significance disappeared when corrected (Pc > 0.05). We did not find any significant association between the remaining 11 microsatellite markers, including D2S177, which may be associated with CYP1B1, and NTG (P > 0.05).Conclusions: Our study showed no association between the GLCA3 locus and NTG, suggesting that the CYP1B1 gene, which is reportedly involved in a range of glaucoma phenotypes, may not be an associated factor in the pathogenesis of NTG.Keywords: GLCA3, microsatellite, normal tension glaucoma, polymorphism