MONDAY, March 20 (HealthDay News) -- Loss of function of the filaggrin gene, which helps construct the protective cornified envelope of skin, has been linked to an elevated risk for atopic dermatitis and the subtype of asthma that accompanies it, according to a study published online March 19 in Nature Genetics.
A previous study by lead author W.H. Irwin McLean, Ph.D., from the University of Dundee in Scotland, showed that patients with ichthyosis vulgaris, a disease caused by mutant filaggrin, also had an elevated level of atopic dermatitis. In this study, McLean and colleagues assessed the atopy risk imposed by mutant filaggrin in European cohort studies.
The investigators found that filaggrin mutations were a strong predictor of atopic dermatitis in a group of nine families. Forty-four percent of patients with mild ichthyosis vulgaris and 76 percent with severe ichthyosis had atopic dermatitis, and all had at least one copy of the mutant genes. The link held true in larger European cohorts, but the mutations were absent in Asian and African populations.
The filaggrin mutations also correlated with asthma in the presence of atopic dermatitis. The authors estimate that 9 percent of the European population carry a mutant filaggrin allele, which may explain why atopic disease is increasing in Western cultures.
"This work establishes a key role for impaired skin barrier function in the development of atopic disease," the authors conclude.
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