Yonsei Med J.  2017 Mar;58(2):395-400. 10.3349/ymj.2017.58.2.395.

Filaggrin Mutation in Korean Patients with Atopic Dermatitis

• On HR
• Lee SE
• Kim SE
• Hong WJ
• Kim HJ
• Nomura T
• Suzuki S
• Shimizu H
• Kim SC

• KMID: 2427129
• DOI: http://doi.org/10.3349/ymj.2017.58.2.395

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.

Keyword

Atopic dermatitis; filaggrin mutation; Korean

MeSH Terms

Adolescent
Adult
Asian Continental Ancestry Group/genetics
Dermatitis, Atopic/ethnology/*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
Intermediate Filament Proteins

Figure

• 

  Fig. 1 FLG mutations detected in patients with atopic dermatitis. (A) A heterozygous deletion mutation, 3321delA, in FLG repeat 2 in exon 3 was identified in patient no. 28. (B) Two heterozygous transition mutations, c.8666C→G and c.8667C→A, in patient no. 11 resulted in S2889X. (C) A heterozygous transition mutation, c.9887C→A, in patient no. 66 resulted in S3296X. (D) A heterozygous transition mutation, 14011A→T, in patient no. 40 resulted in nonsense mutation K4022X. FLG, filaggrin gene.

• 

  Fig. 2 Clinical features of patients with atopic dermatitis. (A) Palmar hyperlinearity of an atopic dermatitis patient with mutation K4022X. (B) Fine scales and xerosis on the trunk of a patient with mutations S2889X and S3296. (C) Erythematous papules and a patch on the back of a patient with mutation 3321delA.

• 

  Fig. 3 Clinical phenotype difference among each FLG mutations. (A) SCORAD index. (B) Age of onset. (C) IgE level. FLG, filaggrin gene; SCORAD, SCORing Atopic Dermatitis.

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