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Tamari, Mayumi; Hirota, Tomomitsu
Journal of dermatology, March 2014, Letnik: 41, Številka: 3Journal Article
Atopic dermatitis is a common inflammatory disease caused by a combination of genetic and environmental factors. Genome‐wide association study (GWAS) is a comprehensive and unbiased approach to identify the genetic components of human diseases and to discover the cellular pathways underlying them. GWAS and recent immunochip analysis of atopic dermatitis have identified a total of 19 associated loci with a genome‐wide level of significance (P < 5 × 10−8). The candidate genes identified by GWAS suggest a role for epidermal barrier functions, innate‐adaptive immunity, interleukin‐1 family signaling, regulatory T cells, the vitamin D pathway and the nerve growth factor pathway in the pathogenesis of atopic dermatitis. Combinations of these genetic factors may influence a wide range of phenotypes of atopic dermatitis among individuals. Although a more complete collection of associated genes and pathways is needed, genetic components revealed by GWAS provide valuable insights into the pathophysiology of atopic dermatitis.
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