Keratoconus-susceptibility gene identification by corneal thickness genome-wide association study and artificial intelligence IBM Watson.
Yoshikatsu HosodaMasahiro MiyakeAkira MeguroYasuharu TabaraSachiko IwaiNaoko Ueda-ArakawaEri NakanoYuki MoriMunemitsu YoshikawaHideo NakanishiChiea Chuen KhorSeang-Mei SawRyo YamadaFumihiko MatsudaChing-Yu ChengNobuhisa MizukiAkitaka TsujikawaKenji Yamashironull nullPublished in: Communications biology (2020)
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.
Keyphrases
- genome wide association study
- optical coherence tomography
- artificial intelligence
- wound healing
- deep learning
- machine learning
- big data
- cataract surgery
- genome wide
- induced apoptosis
- multiple sclerosis
- poor prognosis
- oxidative stress
- gene expression
- dna methylation
- mesenchymal stem cells
- signaling pathway
- optic nerve
- cell proliferation
- copy number
- transcription factor
- endoplasmic reticulum stress