1. Keratoconus-susceptibility gene identification by corneal thickness genome-wide association study and artificial intelligence IBM Watson.
- Author
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Hosoda Y, Miyake M, Meguro A, Tabara Y, Iwai S, Ueda-Arakawa N, Nakano E, Mori Y, Yoshikawa M, Nakanishi H, Khor CC, Saw SM, Yamada R, Matsuda F, Cheng CY, Mizuki N, Tsujikawa A, and Yamashiro K
- Subjects
- Animals, Artificial Intelligence, Cornea pathology, Cornea ultrastructure, Corneal Pachymetry methods, Corneal Transplantation, Epithelium, Corneal metabolism, Female, Gene Expression Regulation genetics, Genome-Wide Association Study, Humans, Keratoconus pathology, Keratoconus therapy, Male, Mice, Polymorphism, Single Nucleotide, Adaptor Proteins, Vesicular Transport genetics, Cornea metabolism, Genetic Predisposition to Disease, Keratoconus genetics, Smad3 Protein genetics
- 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.- Published
- 2020
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