Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. | Read by QxMD (original) (raw)
Journal Article
Research Support, Non-U.S. Gov't
Colin N A Palmer, Alan D Irvine, Ana Terron-Kwiatkowski, Yiwei Zhao, Haihui Liao, Simon P Lee, David R Goudie, Aileen Sandilands, Linda E Campbell, Frances J D Smith, Gráinne M O'Regan, Rosemarie M Watson, Jo E Cecil, Sherri J Bale, John G Compton, John J DiGiovanna, Philip Fleckman, Sue Lewis-Jones, Gehan Arseculeratne, Ann Sergeant, Colin S Munro, Brahim El Houate, Ken McElreavey, Liselotte B Halkjaer, Hans Bisgaard, Somnath Mukhopadhyay, W H Irwin McLean
Atopic disease, including atopic dermatitis (eczema), allergy and asthma, has increased in frequency in recent decades and now affects approximately 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 approximately 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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