Keratoconus-susceptibility gene identification by corneal thickness genome-wide association study and artificial intelligence IBM Watson
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.
Journal
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- Communications Biology
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Communications Biology 3 410-, 2020-07-31
Springer Nature
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Details 詳細情報について
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- CRID
- 1050848249861078528
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- NII Article ID
- 120006876565
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- ISSN
- 23993642
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- HANDLE
- 2433/253548
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- Text Lang
- en
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- Article Type
- journal article
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- Data Source
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- IRDB
- Crossref
- CiNii Articles
- KAKEN