Communications biology · 2020
Keratoconus-susceptibility gene identification by corneal thickness genome-wide association study and artificial intelligence IBM Watson.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
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Hosoda Yoshikatsu, Miyake Masahiro, Meguro Akira, Tabara Yasuharu, Iwai Sachiko, Ueda-Arakawa Naoko, Nakano Eri, Mori Yuki, Yoshikawa Munemitsu, Nakanishi Hideo, Khor Chiea-Chuen, Saw Seang-Mei, Yamada Ryo, Matsuda Fumihiko, Cheng Ching-Yu, Mizuki Nobuhisa, Tsujikawa Akitaka, Yamashiro Kenji, Nagahama Study Group
Аннотация
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.