2020年12月1日
Keratoconus-susceptibility gene identification by corneal thickness genome-wide association study and artificial intelligence IBM Watson
Communications Biology
- 巻
- 3
- 号
- 1
- 記述言語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1038/s42003-020-01137-3
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.
- リンク情報
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- DOI
- https://doi.org/10.1038/s42003-020-01137-3
- PubMed
- https://www.ncbi.nlm.nih.gov/pubmed/32737415
- Scopus
- https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85088866964&origin=inward 本文へのリンクあり
- Scopus Citedby
- https://www.scopus.com/inward/citedby.uri?partnerID=HzOxMe3b&scp=85088866964&origin=inward
- ID情報
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- DOI : 10.1038/s42003-020-01137-3
- eISSN : 2399-3642
- PubMed ID : 32737415
- SCOPUS ID : 85088866964