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On the Horizon
November 2007

The Role of Filaggrin Mutations as an Etiologic Factor in Atopic Dermatitis

Author Affiliations
 

GARY S.WOODMDCRAIG A.ELMETSMDMOLLY A.HINSHAWMDJAY C.KLEMMEMD, MPHMARK R.PITTELKOWMDMARTIN A.WEINSTOCKMD, PhDDAVID T.WOODLEYMD

Arch Dermatol. 2007;143(11):1437-1438. doi:10.1001/archderm.143.11.1437

Atopic disease, including atopic dermatitis (eczema), allergy and asthma, has increased in frequency in recent decades and now affects 20% of the population in the developed world. Twin and family studies have shown that predisposition to atopic disease is highly heritable. Although most genetic studies have focused on immunological mechanisms, a primary epithelial barrier defect has been anticipated. Filaggrin is a key protein that facilitates terminal differentiation of the epidermis and formation of the skin barrier. Here we show that two independent loss-of-function genetic variants (R510X and 2282del4) in the gene encoding filaggrin (FLG) are very strong predisposing factors for atopic dermatitis. These variants are carried by 9% of people of European origin. These variants also show highly significant association with asthma occurring in the context of atopic dermatitis. This work establishes a key role for impaired skin barrier function in the development of atopic disease.

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