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| ファイル | 記述 | サイズ | フォーマット | |
|---|---|---|---|---|
| s42003-020-01137-3.pdf | 1.35 MB | Adobe PDF | 見る/開く |
| タイトル: | Keratoconus-susceptibility gene identification by corneal thickness genome-wide association study and artificial intelligence IBM Watson |
| 著者: | Hosoda, Yoshikatsu Miyake, Masahiro   Meguro, Akira Tabara, Yasuharu Iwai, Sachiko Ueda-Arakawa, Naoko Nakano, Eri Mori, Yuki Yoshikawa, Munemitsu Nakanishi, Hideo Khor, Chiea-Chuen Saw, Seang-Mei Yamada, Ryo Matsuda, Fumihiko Cheng, Ching-Yu Mizuki, Nobuhisa Tsujikawa, Akitaka Yamashiro, Kenji The Nagahama Study Group |
| 著者名の別形: | 細田, 祥勝 三宅, 正裕 目黑, 明 田原, 康玄 岩井, 祥子 上田, 奈央子 中野, 絵梨 森, 雄貴 吉川, 宗光 中西, 秀雄 山田, 亮 松田, 文彦 水木, 信久 辻川, 明孝 山城, 健児 |
| キーワード: | Computational platforms and environments Corneal diseases Genome-wide association studies |
| 発行日: | 31-Jul-2020 |
| 出版者: | Springer Nature |
| 誌名: | Communications Biology |
| 巻: | 3 |
| 論文番号: | 410 |
| 抄録: | Keratoconus is a common ocular disorder that causes progressive corneal thinning and is the leading indication for corneal transplantation. Central corneal thickness (CCT) is a highly heritable characteristic that is associated with keratoconus. In this two-stage genome-wide association study (GWAS) of CCT, we identified a locus for CCT, namely STON2 rs2371597 (P = 2.32 × 10−13), and confirmed a significant association between STON2 rs2371597 and keratoconus development (P = 0.041). Additionally, strong STON2 expression was observed in mouse corneal epithelial basal cells. We also identified SMAD3 rs12913547 as a susceptibility locus for keratoconus development using predictive analysis with IBM’s Watson question answering computer system (P = 0.001). Further GWAS analyses combined with Watson could effectively reveal detailed pathways underlying keratoconus development. |
| 記述: | 人工知能(IBM Watson)の活用により円錐角膜に関連する遺伝子変異を発見. 京都大学プレスリリース. 2020-08-03. |
| 著作権等: | © The Author(s) 2020. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
| URI: | http://hdl.handle.net/2433/253548 |
| DOI(出版社版): | 10.1038/s42003-020-01137-3 |
| PubMed ID: | 32737415 |
| 関連リンク: | https://www.kyoto-u.ac.jp/ja/research-news/2020-08-03-0 |
| 出現コレクション: | 学術雑誌掲載論文等 |
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