Genome-Wide Association Study for Atopic Dermatitis in the Japanese Population

  • Mayumi TamariEmail author
  • Tomomitsu Hirota


Atopic dermatitis (AD) is a chronic inflammatory skin disease in which there are considerable genetic contributions. Genome-wide association studies (GWASs) provide an unbiased method to identify the genetic factors of human diseases and phenotypes comprehensively. Although it is well known that loss-of-function mutations in FLG are the most significant genetic risk factor for AD, recent GWASs, immunochip analyses, and meta-analyses of GWASs have identified a number of loci associated with AD. Candidate genes identified by GWASs of AD are involved in skin barrier functions and innate and adaptive immune responses. Those findings imply a substantial overlap of genetic components with other autoimmune and inflammatory diseases. Genetic variants may influence molecular phenotypes, including RNA expression and stability, transcription factor binding, DNA methylation, histone modifications, and protein levels. Understanding the functional links between susceptibility variants and phenotypic traits is crucial to improve our knowledge of AD. Further interdisciplinary research is necessary for translation of the genetics of AD into clinical practice.


Atopic dermatitis Genome-wide association study Immunochip analysis Meta-analysis Genetic variants 


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Copyright information

© Springer Nature Singapore Pte Ltd. 2018

Authors and Affiliations

  1. 1.ProfessorThe Jikei University School of Medicine, Research Center for Medical Science, Core Research Facilities for Basic Science (Molecular Genetics)TokyoJapan
  2. 2.Laboratory for Respiratory and Allergic Diseases, Center for Integrative Medical SciencesInstitute of Physical and Chemical Research (RIKEN)YokohamaJapan

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