Filaggrin mutation in Korean patients with atopic dermatitis

Hye Rang On, Sang Eun Lee, Song Ee Kim, Won Jin Hong, Hyun Jung Kim, Toshifumi Nomura, Shotaro Suzuki, Hiroshi Shimizu, SooChan Kim

Research output: Contribution to journalArticle

8 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)395-400
Number of pages6
JournalYonsei medical journal
Volume58
Issue number2
DOIs
Publication statusPublished - 2017 Mar 1

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Atopic Dermatitis
Mutation
Genes
Eczematous Skin Diseases
filaggrin
Causality
Immunoglobulin E
Population
Phenotype

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

On, H. R., Lee, S. E., Kim, S. E., Hong, W. J., Kim, H. J., Nomura, T., ... Kim, S. (2017). Filaggrin mutation in Korean patients with atopic dermatitis. Yonsei medical journal, 58(2), 395-400. https://doi.org/10.3349/ymj.2017.58.2.395
On, Hye Rang ; Lee, Sang Eun ; Kim, Song Ee ; Hong, Won Jin ; Kim, Hyun Jung ; Nomura, Toshifumi ; Suzuki, Shotaro ; Shimizu, Hiroshi ; Kim, SooChan. / Filaggrin mutation in Korean patients with atopic dermatitis. In: Yonsei medical journal. 2017 ; Vol. 58, No. 2. pp. 395-400.
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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.",
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On, HR, Lee, SE, Kim, SE, Hong, WJ, Kim, HJ, Nomura, T, Suzuki, S, Shimizu, H & Kim, S 2017, 'Filaggrin mutation in Korean patients with atopic dermatitis', Yonsei medical journal, vol. 58, no. 2, pp. 395-400. https://doi.org/10.3349/ymj.2017.58.2.395

Filaggrin mutation in Korean patients with atopic dermatitis. / On, Hye Rang; Lee, Sang Eun; Kim, Song Ee; Hong, Won Jin; Kim, Hyun Jung; Nomura, Toshifumi; Suzuki, Shotaro; Shimizu, Hiroshi; Kim, SooChan.

In: Yonsei medical journal, Vol. 58, No. 2, 01.03.2017, p. 395-400.

Research output: Contribution to journalArticle

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AU - On, Hye Rang

AU - Lee, Sang Eun

AU - Kim, Song Ee

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AU - Suzuki, Shotaro

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AU - Kim, SooChan

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N2 - 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.

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On HR, Lee SE, Kim SE, Hong WJ, Kim HJ, Nomura T et al. Filaggrin mutation in Korean patients with atopic dermatitis. Yonsei medical journal. 2017 Mar 1;58(2):395-400. https://doi.org/10.3349/ymj.2017.58.2.395