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

Research output: Contribution to journalArticle

10 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)485-489
Number of pages5
JournalJournal of human genetics
Volume62
Issue number4
DOIs
Publication statusPublished - 2017 Apr 1

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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