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Genome-wide association studies of atopic dermatitis
Mayumi Tamari1, Tomomitsu Hirota
1Laboratory for Respiratory and Allergic Diseases, Center for Integrative Medical Sciences, The Institute of Physical and Chemical Research (RIKEN), Kanagawa, Japan.
Abstract:
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.

