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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

Authors
 Mayumi Ueta  ;  Hiromi Sawai  ;  Ryosei Shingaki  ;  Yusuke Kawai  ;  Chie Sotozono  ;  Kaname Kojima  ;  Kyung-Chul Yoon  ;  Mee Kum Kim  ;  Kyoung Yul Seo  ;  Choun-Ki Joo  ;  Masao Nagasaki  ;  Shigeru Kinoshita  ;  Katsushi Tokunaga 
Citation
 JOURNAL OF HUMAN GENETICS, Vol.62(4) : 485-489, 2017-04 
Journal Title
 JOURNAL OF HUMAN GENETICS 
ISSN
 1434-5161 
Issue Date
2017-04
MeSH
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Asian Continental Ancestry Group ; Child ; Ethnic Groups ; Eye Diseases / chemically induced ; Eye Diseases / genetics* ; Eye Diseases / pathology ; Female ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genotype ; HLA-A2 Antigen / genetics* ; Humans ; Japan ; Male ; Middle Aged ; Multi-Ingredient Cold, Flu, and Allergy Medications / adverse effects ; Polymorphism, Single Nucleotide ; Recombinases / genetics* ; Stevens-Johnson Syndrome / complications ; Stevens-Johnson Syndrome / genetics* ; Stevens-Johnson Syndrome / pathology ; Toll-Like Receptor 3 / genetics*
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.
Full Text
https://www.nature.com/articles/jhg2016160
DOI
10.1038/jhg.2016.160
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers
Yonsei Authors
Seo, Kyoung Yul(서경률) ORCID logo https://orcid.org/0000-0002-9855-1980
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/178338
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