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

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

doi:10.1038/jhg.2016.160

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

J Hum Genet. 2017 Apr;62(4):485-489. doi: 10.1038/jhg.2016.160. Epub 2017 Jan 19.

Authors

Mayumi Ueta^{1

2}, Hiromi Sawai², Ryosei Shingaki³, Yusuke Kawai⁴, Chie Sotozono⁵, Kaname Kojima⁴, Kyung-Chul Yoon⁶, Mee Kum Kim⁷, Kyoung Yul Seo⁸, Choun-Ki Joo⁹, Masao Nagasaki⁴, Shigeru Kinoshita¹, Katsushi Tokunaga²

Affiliations

¹ Department of Frontier Medical Science and Technology for Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
² Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
³ Life Science Business Department, Healthcare Medical Business Promotion Division, Toshiba Corporation Healthcare Company, Tokyo, Japan.
⁴ Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
⁵ Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
⁶ Department of Ophthalmology, Chonnam National University, Gwangju, Korea.
⁷ Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea.
⁸ Department of Ophthalmology, Severance Hospital, Institute of Vision Research, Yonsei University College of Medicine, Seoul, Korea.
⁹ Department of Ophthalmology and Visual Science, Seoul St Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

PMID: 28100913
DOI: 10.1038/jhg.2016.160

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.

MeSH terms

Adolescent
Adult
Aged
Aged, 80 and over
Asian People
Cell Cycle Proteins
Child
Ethnicity
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*

Substances

Cell Cycle Proteins
HLA-A*02:06 antigen
HLA-A2 Antigen
Multi-Ingredient Cold, Flu, and Allergy Medications
REC114 protein, human
Recombinases
TLR3 protein, human
Toll-Like Receptor 3