2013 Fiscal Year Final Research Report
Identification of Japanese-specific SNP in exfoliation glaucoma patients with genome-wide association analysis of 1000K microarray
| Project/Area Number |
23592582
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Ophthalmology
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| Research Institution | Kyoto Prefectural University of Medicine |
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Principal Investigator |
IKEDA YOKO 京都府立医科大学, 医学(系)研究科(研究院), 客員講師 (00433243)
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| Co-Investigator(Kenkyū-buntansha) |
TASHIRO Kei 京都府立医科大学, 医学研究科, 教授 (10263097)
KINOSHITA Shigeru 京都府立医科大学, 医学研究科, 教授 (30116024)
MORI Kazuhiko 京都府立医科大学, 医学研究科, 講師 (40252001)
NAKANO Masakazu 京都府立医科大学, 医学研究科, 准教授 (70381944)
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| Co-Investigator(Renkei-kenkyūsha) |
IMAI Kojiro 京都府立医科大学, 医学研究科 医療フロンティア展開学, 講師 (70728443)
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| Project Period (FY) |
2011 – 2013
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| Keywords | 落屑緑内障 / 全ゲノム解析 / 遺伝子 |
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| Research Abstract |
We performed a genome-wide association study (GWAS) using 898 samples obtained from Japanese subjects [201 exfoliation syndrome (XFS)/exfoliation glaucoma (XFG) patients and 697 control subjects] by means of 1000K Affymetrix (Santa Clara, CA) microarray. As a result, we identified 34 genome-wide significant single-nucleotide polymorphisms (SNPs) distributed in not only LOXL1 but also in two other genes in the locus. These results were confirmed by analyzing an independent Japanese population consisted of 121 exfoliation syndrome/glaucoma patients and 263 controls. We performed a meta analysis by combining the results of the GWAS and its replication analysis, and we finally obtained 34 SNPs that passed the Bonferroni correction. These results suggested that the combination of newly discovered SNPs might be useful for precise XFG risk assessment, as well as for elucidating the molecular mechanism of XFG pathogenesis through XFS.
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Research Products
(14 results)
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[Journal Article] Novel common variants and susceptible haplotype for exfoliation glaucoma specific to Asian population2014
Author(s)
Nakano M, Ikeda Y, Tokuda Y, Fuwa M, Ueno M, Imai K, Sato R, Omi N, Adachi H, Kageyama M, Mori K, Kinoshita S,Tashiro K
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Journal Title
Sci Rep
Volume: 4
Pages: 5340
DOI
Peer Reviewed
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[Presentation] Exome-wide association study for the identification of genes for primary open angle glaucoma (POAG)2013
Author(s)
Li Z, Khor CC, Ikeda Y, Jia L, Chen LJ, Nakano M, GeorgeR, Do T, Abu-Amero, K, Tajudin LS, Kee C, Mineo O, Takanori M, Zhang M, Jonas JB, Chau T N, Fuse N, Wong TY, Liu JJ, Garway-Heath DF, Simmons CP, Vijaya L, Kinoshita S, Pang CP, Wang NL, Allingham RR, Hauser MA, Tashiro K, Aung T, Vithana EN
Organizer
63rd Annual Meeting of the American Society of Human Genetics
Place of Presentation
Boston
Year and Date
20131022-26
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