| Item type |
文献 / Documents(1) |
| 公開日 |
2021-02-18 |
| アクセス権 |
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アクセス権 |
open access |
| 資源タイプ |
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資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
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資源タイプ |
journal article |
| 出版社版DOI |
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関連識別子 |
https://doi.org/10.1167/iovs.18-25497 |
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関連名称 |
10.1167/iovs.18-25497 |
| 出版タイプ |
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出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| タイトル |
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|
タイトル |
Genome-Wide Association Study to Identify a New Susceptibility Locus for Central Serous Chorioretinopathy in the Japanese Population |
| タイトル別表記 |
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その他のタイトル |
GWAS for Japanese CSC |
| 著者 |
ミキ, アキコ
サクラダ, ヨウイチ
タナカ, コウジ
センバ, ケンタロウ
三田村, 佳典
ユザワ, ミツコ
田嶋, 敦
ナカトチ, マサヒロ
ヤマモト, ケン
マツオ, ケイタロウ
井本, 逸勢
ホンダ, シゲル
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| 抄録 |
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内容記述 |
PURPOSE. Central serous chorioretinopathy (CSC) is a retinal disorder that often affects the vision of middle-aged people yet the molecular mechanisms of CSC remain unknown. This study was conducted to identify genetic factors influencing individual differences in susceptibility to CSC.
METHODS. A two-stage genome-wide association study (GWAS) was conducted with a total of 320 unrelated Japanese idiopathic CSC cases and 3245 population-based controls. In a discovery stage, 137 unrelated Japanese idiopathic CSC cases and 1174 population-based controls were subjected to GWAS, followed by a replication study using an additional 183 individuals with idiopathic CSC and 2071 population-based volunteers. The results of the discovery and replication stages were combined to conduct a meta-analysis.
RESULTS. In the two-stage GWAS, rs11865049 located at SLC7A5 in chromosome 16q24.2 was identified as a novel disease susceptibility locus for CSC, as evident from the discovery and replication results using meta-analysis (combined P = 9.71 × 10−9, odds ratio = 2.10).
CONCLUSIONS. The results of the present study demonstrated that SLC7A5 might be the potential candidate gene associated with CSC, indicating a previously unidentified molecular mechanism of CSC. |
| キーワード |
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主題 |
central serous chorioretinopathy |
| キーワード |
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|
主題 |
genome-wide association study |
| キーワード |
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|
主題 |
Japanese |
| キーワード |
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|
主題 |
SLC7A5 |
| 書誌情報 |
en : Investigative Ophthalmology & Visual Science
巻 59,
号 13,
p. 5542-5547,
発行日 2018-11
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| 収録物ID |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
15525783 |
| 出版者 |
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出版者 |
Silverchair |
| 出版者 |
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出版者 |
The Association for Research in Vision and Ophthalmology |
| 権利情報 |
|
|
権利情報 |
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. |
| EID |
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|
識別子 |
351578 |
| 言語 |
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|
言語 |
eng |
iovs_59_13_5542.pdf (579 KB)
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