Abstract
Skin barrier disruptions are major risk factors for atopic dermatitis (AD) and atopic march progression. We recently found that the exonic CARD14 variant rs11652075 (R820W) is associated with low epidermal expression of the barrier protein filaggrin in children with AD, and that CARD14 regulates filaggrin in a genotype-dependent fashion. This suggests the variant negatively impacts barrier function. We thereby hypothesized that differential CARD14 signaling in variant keratinocytes confers risk for barrier dysfunction and AD.
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