Filaggrin Mutation in Korean Patients with Atopic Dermatitis

Overview

Journal Yonsei Med J

Specialty General Medicine

Date 2017 Jan 26

PMID 28120571

Citations 12

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

Affiliations

Soon will be listed here.

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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