title: Genome-wide association study using the ethnicity-specific Japonica array: identification of new susceptibility loci for cold medicine-related Stevens-Johnson syndrome with severe ocular complications.
abstract: A genome-wide association study (GWAS) for cold medicine-related Stevens-Johnson syndrome (CM-SJS) with severe ocular complications (SOC) was performed in a Japanese population. A recently developed ethnicity-specific array with genome-wide imputation that was based on the whole-genome sequences of 1070 unrelated Japanese individuals was used. Validation analysis with additional samples from Japanese individuals and replication analysis using samples from Korean individuals identified two new susceptibility loci on chromosomes 15 and 16. This study might suggest the usefulness of GWAS using the ethnicity-specific array and genome-wide imputation based on large-scale whole-genome sequences. Our findings contribute to the understanding of genetic predisposition to CM-SJS with SOC.
authors.affiliation: Department of Frontier Medical Science and Technology for Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.|Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
authors.forename: Mayumi
authors.initials: M
authors.lastname: Ueta
authors.affiliation: Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
authors.forename: Hiromi
authors.initials: H
authors.lastname: Sawai
authors.affiliation: Life Science Business Department, Healthcare Medical Business Promotion Division, Toshiba Corporation Healthcare Company, Tokyo, Japan.
authors.forename: Ryosei
authors.initials: R
authors.lastname: Shingaki
authors.affiliation: Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Kawai
authors.affiliation: Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
authors.forename: Chie
authors.initials: C
authors.lastname: Sotozono
authors.affiliation: Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
authors.forename: Kaname
authors.initials: K
authors.lastname: Kojima
authors.affiliation: Department of Ophthalmology, Chonnam National University, Gwangju, Korea.
authors.forename: Kyung-Chul
authors.initials: KC
authors.lastname: Yoon
authors.affiliation: Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Mee Kum
authors.initials: MK
authors.lastname: Kim
authors.affiliation: Department of Ophthalmology, Severance Hospital, Institute of Vision Research, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Kyoung Yul
authors.initials: KY
authors.lastname: Seo
authors.affiliation: Department of Ophthalmology and Visual Science, Seoul St Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
authors.forename: Choun-Ki
authors.initials: CK
authors.lastname: Joo
authors.affiliation: Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
authors.forename: Masao
authors.initials: M
authors.lastname: Nagasaki
authors.affiliation: Department of Frontier Medical Science and Technology for Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
authors.forename: Shigeru
authors.initials: S
authors.lastname: Kinoshita
authors.affiliation: Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
authors.forename: Katsushi
authors.initials: K
authors.lastname: Tokunaga
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People; D018797:Cell Cycle Proteins; D002648:Child; D005006:Ethnicity; D005128:Eye Diseases / Q000139:chemically induced / Q000235:genetics* / Q000473:pathology; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D015789:HLA-A2 Antigen / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D057985:Multi-Ingredient Cold, Flu, and Allergy Medications / Q000009:adverse effects; D020641:Polymorphism, Single Nucleotide; D045522:Recombinases / Q000235:genetics*; D013262:Stevens-Johnson Syndrome / Q000150:complications / Q000235:genetics* / Q000473:pathology; D051196:Toll-Like Receptor 3 / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; C526286:HLA-A*02:06 antigen; D015789:HLA-A2 Antigen; D057985:Multi-Ingredient Cold, Flu, and Allergy Medications; C000620271:REC114 protein, human; D045522:Recombinases; C495344:TLR3 protein, human; D051196:Toll-Like Receptor 3