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

Author:

Hosoda Yoshikatsu,Miyake MasahiroORCID,Meguro Akira,Tabara Yasuharu,Iwai Sachiko,Ueda-Arakawa Naoko,Nakano Eri,Mori Yuki,Yoshikawa Munemitsu,Nakanishi Hideo,Khor Chiea-ChuenORCID,Saw Seang-Mei,Yamada Ryo,Matsuda Fumihiko,Cheng Ching-YuORCID,Mizuki Nobuhisa,Tsujikawa Akitaka,Yamashiro KenjiORCID,Tabara Yasuharu,Kawaguchi Takahisa,Setoh Kazuya,Matsuda Fumihiko,Takahashi Yoshimitsu,Nakayama Takeo,Kosugi Shinji,

Abstract

AbstractKeratoconus 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.

Publisher

Springer Science and Business Media LLC

Subject

General Agricultural and Biological Sciences,General Biochemistry, Genetics and Molecular Biology,Medicine (miscellaneous)

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