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

Autor: Yoshikatsu Hosoda, Masahiro Miyake, Akira Meguro, Yasuharu Tabara, Sachiko Iwai, Naoko Ueda-Arakawa, Eri Nakano, Yuki Mori, Munemitsu Yoshikawa, Hideo Nakanishi, Chiea-Chuen Khor, Seang-Mei Saw, Ryo Yamada, Fumihiko Matsuda, Ching-Yu Cheng, Nobuhisa Mizuki, Akitaka Tsujikawa, Kenji Yamashiro, The Nagahama Study Group
Jazyk: angličtina
Rok vydání: 2020
Předmět:
0301 basic medicine
Male
medicine.medical_specialty
Keratoconus
Corneal Pachymetry
genetic structures
Corneal diseases
medicine.medical_treatment
Medicine (miscellaneous)
Genome-wide association study
Susceptibility gene
Locus (genetics)
Biology
Polymorphism
Single Nucleotide
Genome-wide association studies
General Biochemistry
Genetics and Molecular Biology
Article
Cornea
Corneal Transplantation
03 medical and health sciences
Mice
0302 clinical medicine
Artificial Intelligence
Computational platforms and environments
Ophthalmology
medicine
Animals
Humans
Genetic Predisposition to Disease
Smad3 Protein
lcsh:QH301-705.5
Corneal transplantation
Corneal Diseases
Epithelium
Corneal
medicine.disease
eye diseases
Adaptor Proteins
Vesicular Transport
030104 developmental biology
Gene Expression Regulation
lcsh:Biology (General)
Susceptibility locus
Female
sense organs
General Agricultural and Biological Sciences
Ibm watson
030217 neurology & neurosurgery
Genome-Wide Association Study
Zdroj: Communications Biology, Vol 3, Iss 1, Pp 1-9 (2020)
Communications Biology
ISSN: 2399-3642
DOI: 10.1038/s42003-020-01137-3
Popis: 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.
Yoshikatsu Hosoda et al. study the genetic basis for central corneal thickness (CCT) that is associated with keratoconus. They identify two susceptibility loci, STON2 rs2371597 and SMAD3 rs12913547, using two-step genome-wide association study (GWAS) and predictive analysis with IBM’s Watson question answering computer system, respectively.
Databáze: OpenAIRE
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