Filaggrin mutation in Korean patients with atopic dermatitis

Abstract

Atopic dermatitis (AD) is a chronic, relapsing eczematous inflammatory skin disease. Filaggrin gene, FLG, mutation is a major predisposing factor for AD. Ethnic difference exists between Asian and European populations in the frequencies and prevalence of FLG mutations. Also, there is a difference in prevalent mutations among Asian countries. The aim of this study was to examine the spectrum of FLG mutations in Korean AD individuals; we also investigate the association of FLG mutations and clinical markers of AD, and compare the FLG landscape with other Asian countries.

Sixty-six patients who were diagnosed as AD were enrolled in this study. Eleven FLG mutations previously detected in Korean, Chinese and Japanese populations were screened by genotyping. The mean age of the patients with AD was 19.5 years and 71.2% were male. Four kinds of FLG null mutations (3321delA, S2889X, S3296X, and K4022X) were identified in total eleven patients (16.7%). One patient showed coexistence of two FLG mutations, S2889X and S3296X. There was a significant association between FLG mutations and allergic type of AD, palmar hyperlinearity, and a family history of allergic disease.

Of these mutations, three mutations (K4022X, S2889X, and S3296X) were first identified in Korean AD populations. In conclusion, our study expanded the landscape FLG mutations in Korean AD population.