Novel role for caspase recruitment domain family member 14 and its genetic variant rs11652075 in skin filaggrin homeostasis
SB DeVore, ML Stevens, H He, JM Biagini… - Journal of Allergy and …, 2022 - Elsevier
Background Low epidermal filaggrin (FLG) is a risk factor for atopic dermatitis (AD) and
allergic comorbidity. FLG mutations do not fully explain the variation in epidermal FLG
levels, highlighting that other genetic loci may also regulate FLG expression. Objective We
sought to identify genetic loci that regulate FLG expression and elucidate their functional
and mechanistic consequences. Methods A genome-wide association study of quantified
skin FLG expression in lesional and baseline non (never)-lesional skin of children with AD in …
allergic comorbidity. FLG mutations do not fully explain the variation in epidermal FLG
levels, highlighting that other genetic loci may also regulate FLG expression. Objective We
sought to identify genetic loci that regulate FLG expression and elucidate their functional
and mechanistic consequences. Methods A genome-wide association study of quantified
skin FLG expression in lesional and baseline non (never)-lesional skin of children with AD in …
