LB1085 Whole genome sequencing reveals novel rare loss-of-function variants in the Epidermal Differentiation Complex as predisposing factors to Atopic Dermatitis

The epidermal differentiation complex (EDC) includes over fifty genes encoding proteins involved in keratinocyte development. These belong to three gene families: the cornified envelope precursor family, the S100 protein family and the S100 fused type protein (SFTP). Of these fifty genes, filaggrin (FLG) located on chromosome 1 q21, a member of the SFTP family, is the most studied in the context of skin barrier dysfunction. We investigated the frequency and effect of rare loss-of-function (LOF) variants within the EDC in patients of a clinical study, VP-VLY-686-2102.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research