Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

@article{Palmer2006CommonLV,
  title={Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis},
  author={Colin N. A. Palmer and Alan D. Irvine and Ana Terron-Kwiatkowski and Yiwei Zhao and Haihui Liao and Simon P. Lee and David R. Goudie and Aileen Sandilands and Linda E. Campbell and Frances J. D. Smith and Gr{\'a}inne M. O’Regan and Rosemarie M. Watson and Joanne E Cecil and Sherri J. Bale and John G. Compton and John J. DiGiovanna and Philip Fleckman and S. Lewis-jones and Gehan Arseculeratne and Ann Sergeant and Colin S. Munro and Brahim El Houate and Ken McElreavey and Liselotte Brydensholt Halkjaer and Hans Bisgaard and Somnath Mukhopadhyay and W.H. Irwin McLean},
  journal={Nature Genetics},
  year={2006},
  volume={38},
  pages={441-446}
}
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… 

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The role of a genetically impaired epidermal barrier as a major predisposing factor in the pathogenesis of atopic
  • Biology
  • 2007
TLDR
The association of atopic dermatitis with fil­ aggrin variants was confirmed, but not that of SPINK5 or KLK7 polymorphisms, and SCORAD and TEWL meas­ urements were not influenced by any of the variants.
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