Academic Journal
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis
| العنوان: | Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis |
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| المؤلفون: | Palmer, C N A, Irvine, A D, Terron-Kwiatkowski, A, Zhao, Y W, Liao, H H, Lee, S P, Goudie, D R, Sandilands, A, Campbell, L E, Smith, F J D, O'Regan, G M, Watson, R M, Cecil, J E, Bale, S J, Compton, J G, DiGiovanna, J J, Fleckman, P, Lewis-Jones, S, Arseculeratne, G, Sergeant, A, Munro, C S, El Houate, B, McElreavey, K, Halkjaer, L B, Bisgaard, H, Mukhopadhyay, S, McLean, W H I |
| المصدر: | Palmer , C N A , Irvine , A D , Terron-Kwiatkowski , A , Zhao , Y W , Liao , H H , Lee , S P , Goudie , D R , Sandilands , A , Campbell , L E , Smith , F J D , O'Regan , G M , Watson , R M , Cecil , J E , Bale , S J , Compton , J G , DiGiovanna , J J , Fleckman , P , Lewis-Jones , S , Arseculeratne , G , Sergeant , A , Munro , C .... |
| سنة النشر: | 2006 |
| مصطلحات موضوعية: | PARTY DIAGNOSTIC-CRITERIA, ICHTHYOSIS VULGARIS, CORNIFIED ENVELOPE, SKIN, GENE, DIFFERENTIATION, ASTHMA, HYPERRESPONSIVENESS, EPIDEMIOLOGY, POPULATION |
| الوصف: | Atopic disease, including atopic dermatitis (eczema), allergy and asthma, has increased in frequency in recent decades(1) and now affects similar to 20% of the population in the developed world. Twin and family studies have shown that predisposition to atopic disease is highly heritable(2). Although most genetic studies have focused on immunological mechanisms, a primary epithelial barrier defect has been anticipated(3). 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 similar to 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1038/ng1767 |
| الاتاحة: | https://research-portal.st-andrews.ac.uk/en/publications/a3611267-6292-4497-8d86-959f3962ad73 https://doi.org/10.1038/ng1767 http://www.scopus.com/inward/record.url?scp=33645399288&partnerID=8YFLogxK http://www.nature.com/ng/journal/v38/n4/full/ng1767.html |
| Rights: | info:eu-repo/semantics/restrictedAccess |
| رقم الانضمام: | edsbas.7BECD5F9 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/ng1767 |
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