Genome-wide Association Study of Normal Tension Glaucoma: Common Variants in SRBD1 and ELOVL5 Contribute to Disease Susceptibility

被引：88

作者：

Meguro, Akira ^{[1
]}

Inoko, Hidetoshi ^{[16
]}

Ota, Masao ^{[2
]}

Mizuki, Nobuhisa ^{[1
]}

Bahram, Seiamak ^{[3
]}

Shiota, Tomoko ^{[1
]}

Itoh, Norihiko ^{[1
]}

Nomura, Naoko ^{[1
]}

Murakami, Kaori ^{[1
]}

Sato, Mayuki ^{[1
]}

Okada, Eiichi ^{[4
]}

Iijima, Hiroyuki ^{[5
]}

Kashiwagi, Kenji ^{[5
]}

Mabuchi, Fumihiko ^{[5
]}

Yamamoto, Tetsuya ^{[6
]}

Kawase, Kazuhide ^{[6
]}

Negi, Akira ^{[7
]}

Nakamura, Makoto ^{[7
]}

Nishida, Teruo ^{[8
]}

Sagara, Takeshi ^{[8
]}

Tanihara, Hidenobu ^{[9
]}

Inatani, Masaru ^{[9
]}

Araie, Makoto ^{[10
]}

Aihara, Makoto ^{[10
]}

Abe, Haruki ^{[11
]}

Fukuchi, Takeo ^{[11
]}

Sugiyama, Kazuhisa ^{[12
]}

Higashide, Tomomi ^{[12
]}

Kiuchi, Yoshiaki ^{[13
]}

Kanamoto, Takashi ^{[13
]}

Iwase, Aiko ^{[14
]}

Ohno, Shigeaki ^{[15
]}

Inoko, Hidetoshi ^{[16
]}

机构：

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

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

[3] Ctr Rech Immunol & Hematol, Strasbourg, Bas Rhin, France

[4] Okada Eye Clin, Kanagawa, Japan

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

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

[7] Kobe Univ, Grad Sch Med, Dept Surg, Div Ophthalmol, Kobe, Hyogo 657, Japan

[8] Yamaguchi Univ, Dept Biomol Recognit & Ophthalmol, Sch Med, Yamaguchi, Japan

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

[10] Univ Tokyo, Sch Med, Dept Ophthalmol, Bunkyo Ku, Tokyo 113, Japan

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

[12] Kanazawa Univ, Dept Ophthalmol & Visual Sci, Grad Sch Med Sci, Kanazawa, Ishikawa, Japan

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

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

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

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

来源：

OPHTHALMOLOGY | 2010年 / 117卷 / 07期

关键词：

HUMAN POLYNUCLEOTIDE PHOSPHORYLASE; RIBOSOMAL-PROTEIN S1; POLYUNSATURATED FATTY-ACIDS; OPEN-ANGLE GLAUCOMA; ESCHERICHIA-COLI; GENE; RNA; HPNPASE(OLD-35); TRANSLATION; MUTATION;

D O I：

10.1016/j.ophtha.2009.12.001

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Purpose: Factors contributing to the development of normal tension glaucoma (NTG), degenerative optic neuropathy characterized by the progressive loss of retinal ganglion cells, optic nerve axons, and visual fields, have not been determined. To identify genetic risk factors for NTG, we performed a genome-wide association study of NTG. Design: Case-control study. Participants: The study cohort consisted of 305 Japanese patients with NTG and 355 controls. Methods: We genotyped 500 568 single-nucleotide polymorphisms (SNPs) and assessed the allelic diversity among cases and controls. Main Outcome Measures: Genotypes of 500 568 SNPs. Results: The 2 most strongly NTG-associated SNPs, rs3213787 and rs735860, are located in an intron of SRBD1 and the 3'-untranslated region of ELOVL5 (P = 2.5X10(-9), odds ratio = 2.80 and P = 4.1X10(-6), odds ratio = 1.69), respectively. Real-time quantitative reverse transcription- polymerase chain reaction assays showed significantly increased expression of each gene in the white blood cells of subjects harboring the risk allele of these SNPs. Conclusions: Our genome-wide association study identified SRBD1 and ELOVL5 as new susceptibility genes for NTG. Because SRBD1 and ELOVL5 are reportedly involved in the induction of cell growth inhibition or apoptosis, the regulation of SRBD1 and ELOVL5 cascades may play an important physiologic role in the risk of NTG development. Financial Disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this article. Ophthalmology 2010; 117: 1331-1338 (C) 2010 by the American Academy of Ophthalmology.

引用

页码：1331 / U84

页数：13

共 30 条

[1]

Barragan I, 2005, INT J MOL MED, V16, P1163

[2] Haploview: analysis and visualization of LD and haplotype maps [J].

Barrett, JC ;

Fry, B ;

Maller, J ;

Daly, MJ .

BIOINFORMATICS, 2005, 21 (02) :263-265

[3] The last RNA-binding repeat of the Escherichia coli ribosomal protein S1 is specifically involved in autogenous control [J].

Boni, IV ;

Artamonova, VS ;

Dreyfus, M .

JOURNAL OF BACTERIOLOGY, 2000, 182 (20) :5872-5879

[4] RIBOSOME-MESSENGER RECOGNITION - MESSENGER-RNA TARGET SITES FOR RIBOSOMAL-PROTEIN S1 [J].

BONI, IV ;

ISAEVA, DM ;

MUSYCHENKO, ML ;

TZAREVA, NV .

NUCLEIC ACIDS RESEARCH, 1991, 19 (01) :155-162

[5] The solution structure of the S1 RNA binding domain: A member of an ancient nucleic acid-binding fold [J].

Bycroft, M ;

Hubbard, TJP ;

Proctor, M ;

Freund, SMV ;

Murzin, AG .

CELL, 1997, 88 (02) :235-242

[6]

Chang RCC, 2002, NEUROREPORT, V13, P2429, DOI 10.1097/00001756-200212200-00011

[7] Mammalian polynucleotide phosphorylase is an intermembrane space RNase that maintains mitochondrial homeostasis [J].

Chen, Hsiao-Wen ;

Rainey, Robert N. ;

Balatoni, Cynthia E. ;

Dawson, David W. ;

Troke, Joshua J. ;

Wasiak, Sylwia ;

Hong, Jason S. ;

McBride, Heidi M. ;

Koehler, Carla M. ;

Teitell, Michael A. ;

French, Samuel W. .

MOLECULAR AND CELLULAR BIOLOGY, 2006, 26 (22) :8475-8487

[8] CLONING OF A CDNA-ENCODING A HUMAN DNA-BINDING PROTEIN SIMILAR TO RIBOSOMAL-PROTEIN S1 [J].

EKLUND, EA ;

LEE, SW ;

SKALNIK, DG .

GENE, 1995, 155 (02) :231-235

[9] Gene mapping for primary open angle glaucoma [J].

Fan, BJ ;

Wang, DY ;

Lam, DSC ;

Pang, CP .

CLINICAL BIOCHEMISTRY, 2006, 39 (03) :249-258

[10] The prevalence of primary open-angle glaucoma in Japanese - The Tajimi study [J].

Iwase, A ;

Suzuki, Y ;

Araie, M ;

Yamamoto, T ;

Abe, H ;

Shirato, S ;

Kuwayama, Y ;

Mishima, HK ;

Shimizu, H ;

Tomita, G ;

Inoue, Y ;

Kitazawa, Y .

OPHTHALMOLOGY, 2004, 111 (09) :1641-1648

← 1 2 3 →