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Filaggrin mutation in Korean patients with atopic dermatitis

Authors
 Hye Rang On  ;  Sang Eun Lee  ;  Song-Ee Kim  ;  Won Jin Hong  ;  Hyun Jung Kim  ;  Toshifumi Nomura  ;  Shotaro Suzuki  ;  Hiroshi Shimizu  ;  Soo-Chan Kim 
Citation
 YONSEI MEDICAL JOURNAL, Vol.58(2) : 395-400, 2017 
Journal Title
YONSEI MEDICAL JOURNAL
ISSN
 0513-5796 
Issue Date
2017
MeSH
Adolescent ; Adult ; Asian Continental Ancestry Group/genetics ; Dermatitis, Atopic/ethnology ; Dermatitis, Atopic/genetics* ; Ethnic Groups ; European Continental Ancestry Group ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Hypersensitivity/genetics ; Ichthyosis Vulgaris ; Intermediate Filament Proteins/genetics* ; Male ; Mutation* ; Phenotype ; Recurrence ; Republic of Korea
Keywords
Atopic dermatitis ; Korean ; filaggrin mutation
Abstract
PURPOSE: Atopic dermatitis (AD) is a chronic, relapsing eczematous inflammatory skin disease. Mutations in the filaggrin gene (FLG) are major predisposing factors for AD. Ethnic differences exist between Asian and European populations in the frequency and spectrum of FLG mutations. Moreover, a distinct set of FLG mutations has been reported in Asian populations. The aim of this study was to examine the spectrum of FLG mutations in Koreans with AD. We also investigated the association of FLG mutations and clinical features of AD and compared the Korean FLG landscape with that of other East Asian countries.

MATERIALS AND METHODS: Seventy Korean patients with AD were enrolled in this study. Fourteen FLG mutations previously detected in Korean, Japanese, and Chinese patients were screened by genotyping.

RESULTS: Four FLG null mutations (3321delA, K4022X, S3296X, and S2889X) were identified in eleven patients (15.7%). The most commonly detected mutations in Korean patients with AD were 3321delA (n=6, 9.1%) and K4022X (n=3, 4.5%). FLG mutations were significantly associated with elevated IgE (≥200 KIU/L and/or MAST-CLA >3+, p=0.005), palmar hyperlinearity (p<0.001), and a family history of allergic disease (p=0.021).

CONCLUSION: This study expanded our understanding of the landscape of FLG mutations in Koreans and revealed an association between FLG mutations and AD phenotype.
Files in This Item:
T201700701.pdf Download
DOI
10.3349/ymj.2017.58.2.395
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Dermatology (피부과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Soo Chan(김수찬) ORCID logo https://orcid.org/0000-0002-2327-4755
Lee, Sang Eun(이상은) ORCID logo https://orcid.org/0000-0003-4720-9955
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/154482
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