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Genetic Variants Associated With Common Skin Disorders

  March, 29 2006 9:29
your information resource in human molecular genetics
Mutations in a gene called filaggrin are associated with elevated risks of atopic disease - atopic dermatitis (eczema or inflamed, itchy skin), allergy, and asthma -- according to a study published in the April issue of Nature Genetics.

Mutations in filaggrin - which is a component of the skin that prevents entry of allergens, toxins, and infectious organisms - had previously been shown by Irwin McLean and colleagues at the University of Dundee to cause a skin disorder called ichthyosis vulgaris (scaly skin).

Noting that many individuals with this disease also have atopic dermatitis, McLean and colleagues have now assessed the influence of these filaggrin mutations on the risk of developing atopic dermatitis in the general population. Loss of filaggrin function was associated in each cohort studied with a highly significant risk of developing atopic dermatitis and the subtype of asthma that accompanies it, although it was not associated with risk of developing asthma independent of dermatitis. The authors suggest that a loss of filaggrin leads to a defect in the skin barrier, which makes individuals susceptible to disease-triggering allergen transfer through the skin.

Atopic disease affects about 20% of the population in the developed world. The two filaggrin mutations studied are present in 9% of people of European origin.

Author contact:

Irwin McLean (University of Dundee, UK)
E-mail: w.h.i.mclean@dundee.ac.uk

Abstract available online.

(C) Nature Genetics press release.

Message posted by: Trevor M. D'Souza

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