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Keratoconus-susceptibility gene identification by corneal thickness genome-wide association study and artificial intelligence IBM Watson

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)...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7395727/
https://www.ncbi.nlm.nih.gov/pubmed/32737415
http://dx.doi.org/10.1038/s42003-020-01137-3
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author 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
author_facet 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
author_sort Hosoda, Yoshikatsu
collection PubMed
description 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.
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spelling pubmed-73957272020-08-18 Keratoconus-susceptibility gene identification by corneal thickness genome-wide association study and artificial intelligence IBM Watson 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 Commun Biol Article 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. Nature Publishing Group UK 2020-07-31 /pmc/articles/PMC7395727/ /pubmed/32737415 http://dx.doi.org/10.1038/s42003-020-01137-3 Text en © The Author(s) 2020 Open Access 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/.
spellingShingle Article
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
Keratoconus-susceptibility gene identification by corneal thickness genome-wide association study and artificial intelligence IBM Watson
title Keratoconus-susceptibility gene identification by corneal thickness genome-wide association study and artificial intelligence IBM Watson
title_full Keratoconus-susceptibility gene identification by corneal thickness genome-wide association study and artificial intelligence IBM Watson
title_fullStr Keratoconus-susceptibility gene identification by corneal thickness genome-wide association study and artificial intelligence IBM Watson
title_full_unstemmed Keratoconus-susceptibility gene identification by corneal thickness genome-wide association study and artificial intelligence IBM Watson
title_short Keratoconus-susceptibility gene identification by corneal thickness genome-wide association study and artificial intelligence IBM Watson
title_sort keratoconus-susceptibility gene identification by corneal thickness genome-wide association study and artificial intelligence ibm watson
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7395727/
https://www.ncbi.nlm.nih.gov/pubmed/32737415
http://dx.doi.org/10.1038/s42003-020-01137-3
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