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Author Palmer, C.N.A.; Irvine, A.D.; Terron-Kwiatkowski, A.; Zhao, Y.; Liao, 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. url  doi
  Title Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis Type Journal Article
  Year (down) 2006 Publication Nature Genetics Abbreviated Journal Nat Genet  
  Volume 38 Issue 4 Pages 441-446  
  Keywords Alleles; Asthma/genetics/immunology; Child; Cohort Studies; Dermatitis, Atopic/*genetics/immunology; Female; Genetic Predisposition to Disease; Humans; Intermediate Filament Proteins/genetics/immunology/*physiology; Male; *Mutation; Pedigree; *Skin Physiological Phenomena  
  Abstract 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.  
  Address Population Pharmacogenetics Group, Biomedical Research Centre, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK  
  Corporate Author Thesis  
  Impact Factor 29,352 First Author Palmer, C.N.A. Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Senior Author McLean, W.H.I.  
  ISSN 1061-4036 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:16550169 Approved no  
  Call Number Serial 191  
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