Filaggrin Gene Mutation c.3321delA is Associated with Dry Phenotypes of Atopic Dermatitis in the Chinese Han Population
摘要INTRODUCTIONAtopic dermatitis (AD) is a common chronic inflammatory skin disorder that is characterized by dry skin and disturbed skin barrier functions.Mutations in the filaggrin (FLG) gene,the gene coding profilaggrin/filaggrin,have a great impact on the epidermal barrier function and are an important predisposing factor for AD.However,in both Europeans and Asians,the presence of FLG mutations has been reported to be population-specific.FLG mutation c.3321delA is an Asian-specific mutation and is the most common mutation in the Chinese population,accounting for up to 15% of patients with AD[1] In a previous genome-wide association study of AD,Meng etal.[2] identified FLG variant rs3126085,which was correlated with c.3321delA.Several studies have shown that the c.3321 delA mutation was associated with various AD-associated phenotypes,most of which are related to dry skin phenotypes,including xerosis,ichthyosis vulgaris (Ⅳ),and palmar hyperlinearity.[2] In this study,we used high-resolution melting analysis (HRMA) with unlabeled probe for the detection ofc.3321 delA mutation in Chinese AD patients and investigated the genotype-phenotype correlation between c.3321 delA and atopic characteristics.
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