Chapter

Inherited skin-barrier defects and risk of developing ‘atopic’ eczema

William Cookson

in Landmark Papers in Allergy

Published on behalf of Oxford University Press

Published in print February 2013 | ISBN: 9780199651559
Published online April 2013 | e-ISBN: 9780191754241 | DOI: http://dx.doi.org/10.1093/med/9780199651559.003.0090

Series: Landmark Papers

Inherited skin-barrier defects and risk of developing ‘atopic’ eczema

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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.

Chapter.  1254 words. 

Subjects: Public Health and Epidemiology ; Immunology ; Respiratory Medicine and Pulmonology

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