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Atopy runs in families. Loss-of-function mutations in the gene encoding filaggrin (FLG) greatly increase the risk that carriers will develop atopic dermatitis (AD). Gene-expression studies have also pointed to other predisposing mutations. Now, investigators have used single-molecule direct RNA sequencing to study gene expression across the whole genome.
They examined normal skin of 26 children with AD and 10 teenagers without AD, all of Irish ethnicity. The major findings included the following:
About 73% of patients with AD carried one or more FLG mutations (20% of controls were heterozygous for an FLG mutation).
Having an FLG abnormality affected global gene expression. Overexpressed genes included those related to defense responses and ext…