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.
Keywords: atopic dermatitis; genome-wide association study; immunochip analysis; polymorphisms.
© 2014 Japanese Dermatological Association.