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

Inherited skin-barrier defects and risk of developing ‘atopic’ eczema
Chapter:
Inherited skin-barrier defects and risk of developing ‘atopic’ eczema
Author(s):

William Cookson

DOI:
10.1093/med/9780199651559.003.0090
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date: 25 June 2019

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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