Mutations in the Filaggrin are Predisposing Factor in Korean Children With Atopic Dermatitis

다국어 초록 (Multilingual Abstract)

Purpose: Filaggrin (FLG) is a key protein that facilitates the terminal differentiation of the epidermis and the formation of the skin barrier. Recentstudies showed that atopic dermatitis (AD) associates closely with loss-of-function mutations in the FLG gene. Asian and European populations differin the frequencies of FLG mutations. Several FLG mutations, including 3321delA, E2422X, K4671X, S2554X, and R501X, occur frequently in Chineseand Japanese populations. The association between three FLG null mutations and AD in Korean children was investigated. Methods: TheFLG mutations in 1,430 children (aged 0-18 years) with AD and 862 control subjects were genotyped by using the TaqMan assay. Results: The FLGnull mutation E2422X was not detected in any patients with AD or control subjects. The R501X null mutation was detected in only one child with AD(0.1%). Children with AD had the 3321delA deletion significantly more frequently (2.4%) than the control subjects (0.0%, P<0.001). Children withAD also had a significantly higher combined allele frequency of the three FLG null mutations (2.6%) than the controls (0.0%, P<0.001). The 3321delAnull mutation did not associate significantly with AD severity (P=0.842). When the patients with AD were divided into allergic AD and non-allergicAD patient groups, these two groups did not differ in terms of the frequency of 3321delA. Conclusions: The Korean children had a lower frequencyof FLG mutations than European populations. FLG null mutations may be associated with the development of AD in Korean children.

참고문헌 (Reference)

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