Genome-wide association study using the ethnicity-specific Japonica array: identification of new susceptibility loci for cold medicine-related Stevens–Johnson syndrome with severe ... View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-01-19

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

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. More... »

PAGES

485-489

Journal

TITLE

Journal of Human Genetics

ISSUE

4

VOLUME

62

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/jhg.2016.160

DOI

http://dx.doi.org/10.1038/jhg.2016.160

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1042578764

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28100913


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53 complications
54 findings
55 genetic predisposition
56 genome-wide association studies
57 genome-wide imputation
58 identification
59 imputation
60 individuals
61 large-scale whole-genome sequences
62 loci
63 new susceptibility loci
64 ocular complications
65 population
66 predisposition
67 replication analysis
68 samples
69 sequence
70 severe ocular complications
71 study
72 susceptibility loci
73 syndrome
74 understanding
75 unrelated Japanese individuals
76 usefulness
77 validation analysis
78 whole genome sequences
79 wide association study
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