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

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)...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7395727/
https://www.ncbi.nlm.nih.gov/pubmed/32737415
http://dx.doi.org/10.1038/s42003-020-01137-3
Descripción
Sumario: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.

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