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, Soo Chan Kim

Research output: Contribution to journalArticlepeer-review

26 Citations (Scopus)


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
Issue number2
Publication statusPublished - 2017 Mar

Bibliographical note

Publisher Copyright:
© Yonsei University College of Medicine 2017.

All Science Journal Classification (ASJC) codes

  • Medicine(all)


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