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Genome-wide association study of recalcitrant atopic dermatitis in Korean children

 Kyung Won Kim  ;  Rachel A. Myers  ;  Ji Hyun Lee  ;  Catherine Igartua  ;  Kyung Eun Lee  ;  Yoon Hee Kim  ;  Eun-Jin Kim  ;  Dankyu Yoon  ;  Joo-Shil Lee  ;  Tomomitsu Hirota  ;  Mayumi Tamari  ;  Atsushi Takahashi  ;  Michiaki Kubo  ;  Je-Min Choi  ;  Kyu-Earn Kim  ;  Dan L. Nicolae  ;  Carole Ober  ;  Myung Hyun Sohn 
 Journal of Allergy and Clinical Immunology, Vol.136(3) : 678-4, 2015 
Journal Title
 Journal of Allergy and Clinical Immunology 
Issue Date
BACKGROUND: Atopic dermatitis (AD) is a heterogeneous chronic inflammatory skin disease. Most AD during infancy resolves during childhood, but moderate-to-severe AD with allergic sensitization is more likely to persist into adulthood and more often occurs with other allergic diseases. OBJECTIVE: We sought to find susceptibility loci by performing the first genome-wide association study (GWAS) of AD in Korean children with recalcitrant AD, which was defined as moderate-to-severe AD with allergic sensitization. METHODS: Our study included 246 children with recalcitrant AD and 551 adult control subjects with a negative history of both allergic disease and allergic sensitization. DNA from these subjects was genotyped; sets of common single nucleotide polymorphisms (SNPs) were imputed and used in the GWAS after quality control checks. RESULTS: SNPs at a region on 13q21.31 were associated with recalcitrant AD at a genome-wide threshold of significance (P < 2.0 × 10(-8)). These associated SNPs are more than 1 Mb from the closest gene, protocadherin (PCDH)9. SNPs at 4 additional loci had P values of less than 1 × 10(-6), including SNPs at or near the neuroblastoma amplified sequence (NBAS; 2p24.3), thymus-expressed molecule involved in selection (THEMIS; 6q22.33), GATA3 (10p14), and S-phase cyclin A-associated protein in the ER (SCAPER; 15q24.3) genes. Further analysis of total serum IgE levels suggested 13q21.31 might be primarily an IgE locus, and analyses of published data demonstrated that SNPs at the 15q24.3 region are expression quantitative trait loci for 2 nearby genes, ISL2 and proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1), in immune cells. CONCLUSION: Our GWAS of recalcitrant AD identified new susceptibility regions containing genes involved in epithelial cell function and immune dysregulation, 2 key features of AD, and potentially extend our understanding of their role in pathogenesis.
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1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실)
1. Journal Papers (연구논문) > 2. College of Dentistry (치과대학) > Dept. of Oral Biology (구강생물학교실)
Yonsei Authors
김경원(Kim, Kyung Won) ORCID logo https://orcid.org/0000-0003-4529-6135
김규언(Kim, Kyu Earn)
김윤희(Kim, Yoon Hee) ORCID logo https://orcid.org/0000-0002-2149-8501
손명현(Sohn, Myung Hyun) ORCID logo https://orcid.org/0000-0002-2478-487X
이지현(Lee, Ji Hyun)
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