Please use this identifier to cite or link to this item:
https://doi.org/10.1038/s42003-020-01137-3
Title: | Keratoconus-susceptibility gene identification by corneal thickness genome-wide association study and artificial intelligence IBM Watson | Authors: | Hosoda, Y. Miyake, M. Meguro, A. Tabara, Y. Iwai, S. Ueda-Arakawa, N. Nakano, E. Mori, Y. Yoshikawa, M. Nakanishi, H. Khor, C.-C. Saw, S.-M. Yamada, R. Matsuda, F. Cheng, C.-Y. Mizuki, N. Tsujikawa, A. Yamashiro, K. Tabara, Y. Kawaguchi, T. Setoh, K. Matsuda, F. Takahashi, Y. Nakayama, T. Kosugi, S. The Nagahama Study Group. |
Issue Date: | 31-Jul-2020 | Publisher: | Nature Research | Citation: | Hosoda, Y., Miyake, M., Meguro, A., Tabara, Y., Iwai, S., Ueda-Arakawa, N., Nakano, E., Mori, Y., Yoshikawa, M., Nakanishi, H., Khor, C.-C., Saw, S.-M., Yamada, R., Matsuda, F., Cheng, C.-Y., Mizuki, N., Tsujikawa, A., Yamashiro, K., Tabara, Y., Kawaguchi, T., Setoh, K., Matsuda, F., Takahashi, Y., Nakayama, T., Kosugi, S., The Nagahama Study Group. (2020-07-31). Keratoconus-susceptibility gene identification by corneal thickness genome-wide association study and artificial intelligence IBM Watson. Communications Biology 3 (1) : 410. ScholarBank@NUS Repository. https://doi.org/10.1038/s42003-020-01137-3 | Rights: | Attribution 4.0 International | Abstract: | 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. © 2020, The Author(s). | Source Title: | Communications Biology | URI: | https://scholarbank.nus.edu.sg/handle/10635/198718 | ISSN: | 23993642 | DOI: | 10.1038/s42003-020-01137-3 | Rights: | Attribution 4.0 International |
Appears in Collections: | Staff Publications Elements |
Show full item record
Files in This Item:
File | Description | Size | Format | Access Settings | Version | |
---|---|---|---|---|---|---|
10_1038_s42003_020_01137_3.pdf | 1.39 MB | Adobe PDF | OPEN | None | View/Download |
This item is licensed under a Creative Commons License