Association analysis of filaggrin gene mutations and atopic dermatitis in Northern China.

摘要

Madam, Atopic dermatitis (AD) is a multifactorial disease, which arises from the interaction between strong genetic and environmental factors. Recendy, mere has been growing evidence that heritable skin barrier defects caused by mutations in the filaggrin gene (FLG) play an important role in the path-ogenesis of AD. In FLG, the nonsense mutation RS01X and the frameshift mutation 2282del4 were the first mutations shown to be associated with development of AD in a Caucasian population. Each mutation results in a premature stop codon of FLG leading to filaggrin deficiency and a damaged skin barrier.