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Gene Linked to Skin DisorderGene Linked to Skin Disorder

JAMA. 2006;295(15):1763-1763. doi:10.1001/jama.295.15.1763-a
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GENE LINKED TO SKIN DISORDER

New research indicates that the risk of developing atopic dermatitis is increased by mutations that undermine the function of filaggrin, a skin component that helps block the entry of disease agents such as toxins and allergens. The findings, by an international team of scientists, were published in an advanced online edition of Nature Genetics (Palmer CNA et al. http://dx.doi.org/10.1038/ng1767 [published online ahead of print March 19, 2006]).

Previous work showed that filaggrin mutations cause the skin disorder ichthyosis vulgaris; the investigators suspected that loss of filaggrin function might also play a role in atopic dermatitis because both conditions often occur in the same families. The research team assessed cohorts of patients with atopic dermatitis, patients with childhood asthma, as well as children born to mothers with asthma (along with appropriate controls). The mutations that resulted in loss of filaggrin function were associated with a highly significant risk of developing atopic dermatitis, as well as a highly significant association with the subtype of asthma that occurs in patients with atopic dermatitis.

The two filaggrin mutations are carried by about 9% of individuals of European origin. The authors suggest that such mutations result in an impaired skin barrier that facilitates transfer of disease-triggering allergens through the skin.

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