Association study of genetic variants on chromosome 7q31 with susceptibility to normal tension glaucoma in a Japanese population

被引：17

作者：

Kato, T. ^{[1
]}

Meguro, A. ^{[1
]}

Nomura, E. ^{[1
]}

Uemoto, R. ^{[1
]}

Nomura, N. ^{[1
]}

Ota, M. ^{[2
]}

Kashiwagi, K. ^{[3
]}

Mabuchi, F. ^{[3
]}

Iijima, H. ^{[3
]}

Kawase, K. ^{[4
]}

Yamamoto, T. ^{[4
]}

Nakamura, M. ^{[5
]}

Negi, A. ^{[5
]}

Sagara, T. ^{[6
]}

Nishida, T. ^{[6
]}

Inatani, M. ^{[7
]}

Tanihara, H. ^{[7
]}

Aihara, M. ^{[8
]}

Araie, M. ^{[8
]}

Fukuchi, T. ^{[9
]}

Abe, H. ^{[9
]}

Higashide, T. ^{[10
]}

Sugiyama, K. ^{[10
]}

Kanamoto, T. ^{[11
]}

Kiuchi, Y. ^{[11
]}

Iwase, A. ^{[12
]}

Chin, S. ^{[13
]}

Ohno, S. ^{[14
]}

Inoko, H. ^{[15
]}

Mizuki, N. ^{[1
]}

机构：

[1] Yokohama City Univ, Sch Med, Dept Ophthalmol, Kanagawa, Japan

[2] Shinshu Univ, Sch Med, Dept Legal Med, Nagano, Japan

[3] Univ Yamanashi, Dept Ophthalmol, Fac Med, Yamanashi, Japan

[4] Gifu Univ, Grad Sch Med, Dept Ophthalmol, Gifu, Japan

[5] Kobe Univ, Grad Sch Med, Div Ophthalmol, Dept Surg, Hyogo, Japan

[6] Yamaguchi Univ, Sch Med, Dept Ophthalmol, Yamaguchi, Japan

[7] Kumamoto Univ, Grad Sch Med Sci, Dept Ophthalmol & Visual Sci, Kumamoto, Japan

[8] Univ Tokyo, Sch Med, Dept Ophthalmol, Tokyo 113, Japan

[9] Niigata Univ, Grad Sch Med & Dent Sci, Div Ophthalmol & Visual Sci, Niigata, Japan

[10] Kanagawa Univ, Grad Sch Med Sci, Dept Ophthalmol & Visual Sci, Ishikawa, Japan

[11] Hiroshima Univ, Grad Sch Biomed Sci, Dept Ophthalmol & Visual Sci, Hiroshima, Japan

[12] Tajimi Municipal Hosp, Dept Ophthalmol, Gifu, Japan

[13] Hokkaido Univ, Grad Sch Med, Dept Ophthalmol, Sapporo, Hokkaido 060, Japan

[14] Hokkaido Univ, Grad Sch Med, Dept Ocular Inflammat & Immunol, Sapporo, Hokkaido 060, Japan

[15] Tokai Univ, Sch Med, Div Mol Life Sci, Dept Genet Informat, Kanagawa 2591100, Japan

来源：

EYE | 2013年 / 27卷 / 08期

关键词：

association study; CAV1; CAV2; normal tension glaucoma; single-nucleotide polymorphism; OPEN-ANGLE GLAUCOMA; COMMON VARIANTS; RISK-FACTOR; CAV1;

D O I：

10.1038/eye.2013.123

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

The caveolin 1 to caveolin 2 (CAV1-CAV2) gene region on chromosome 7q31 has been reported to be associated with susceptibility to primary open angle glaucoma (POAG) and normal tension glaucoma (NTG) in previous studies. We investigated whether genetic variants in the CAV1-CAV2 region are associated with NTG in Japanese patients. Two hundred and ninety-two Japanese patients with NTG and 352 Japanese healthy controls were recruited. We genotyped three single-nucleotide polymorphisms; that is, rs1052990, rs4236601, and rs7795356, in the CAV1-CAV2 gene region and assessed the allelic diversity among cases and controls. The frequency of the minor allele (G) of rs1052990 was significantly decreased in NTG cases compared with controls (P = 0.014, OR = 0.71), whereas NTG or POAG cases had a significantly higher frequency of the allele than controls in previous studies. Conversely, rs7795356 did not show any significant association with NTG cases, and rs4236601 was monomorphic in the Japanese study population. Our findings did not correspond with previous positive results, suggesting that CAV1-CAV2 variants studied in the present study are not important risk factors for NTG susceptibility in all populations. Further studies are needed to elucidate the possible contribution of the CAV1-CAV2 region to the development of glaucoma.

引用

页码：979 / 983

页数：5

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