2013 Fiscal Year Final Research Report
Resequencing analysis of glaucoma-associated chromosome loci
| Project/Area Number |
24790323
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pathological medical chemistry
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| Research Institution | Kyoto Prefectural University of Medicine |
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Principal Investigator |
NAKANO Masakazu 京都府立医科大学, 医学(系)研究科(研究院), 准教授 (70381944)
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| Project Period (FY) |
2012-04-01 – 2014-03-31
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| Keywords | 分子病態学 / ゲノムワイド関連解析 / バリアント / 次世代シーケンサー / 遺伝子発現調節 / 緑内障 |
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| Research Abstract |
We previously performed a genome-wide association study (GWAS) and identified 5 variants associated with glaucoma on chromosome 9p21, which is known as a non-coding "gene desert" locus. Since 9p21 region found to be associated with a variety of common diseases and seemed to affect the expression of not only adjacent but also distant genes, it should be important to continue further investigation by obtaining in-depth sequencing data across the locus. Moreover, in order to reveal the complex mechanism of glaucoma pathogenesis, it is apparent that the other multiple loci should also be resequenced.
To this end, we attempted to establish a method utilizing the GWAS data in order to extract the loci to be resequenced, and successfully developed a novel method by applying the principle component analysis. The method established in this study should be a robust tool for determining the loci based on the GWAS data useful for the subsequent resequencing analysis.
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[Presentation] Identification of a novel gene by whole human genome of primary open-angle glaucoma in Japanese population2012
Author(s)
Ishida, H., Yagi, T., Tanaka, M., Tokuda, Y., Kamoi, K., Hongo, F., Kawauchi, A., Nakano, M., Miki, T. and Tashiro, K
Organizer
62nd Annual Meeting of the American Society of Human Genetics
Place of Presentation
San Francisco
Year and Date
20121106-10
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