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

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Evolution of Atopic Dermatitis in the 21st Century

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Abstract

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.

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Author information

Authors and Affiliations

  1. Professor, The Jikei University School of Medicine, Research Center for Medical Science, Core Research Facilities for Basic Science (Molecular Genetics), 3-25-8, Nishi-shinbashi, Minato-ku, Tokyo, 105-8461, Japan

    Mayumi Tamari M.D., Ph.D.

  2. Laboratory for Respiratory and Allergic Diseases, Center for Integrative Medical Sciences, Institute of Physical and Chemical Research (RIKEN), 1-7-22 Suehiro, Tsurumi-ku, Yokohama, Kanagawa, 230-0045, Japan

    Tomomitsu Hirota

Authors
  1. Mayumi Tamari M.D., Ph.D.
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  2. Tomomitsu Hirota
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Correspondence to Mayumi Tamari M.D., Ph.D. .

Editor information

Editors and Affiliations

  1. Department of Dermatology, Integrated Medicine, Graduate School of Medicine, Osaka University, Suita, Osaka, Japan

    Ichiro Katayama

  2. Department of Dermatology, Integrated Medicine, Graduate School of Medicine, Osaka University, Suita, Osaka, Japan

    Hiroyuki Murota

  3. Department of Dermatology, National Defense Medical College, Tokorosazawa, Saitama, Japan

    Takahiro Satoh

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Tamari, M., Hirota, T. (2018). Genome-Wide Association Study for Atopic Dermatitis in the Japanese Population. In: Katayama, I., Murota, H., Satoh, T. (eds) Evolution of Atopic Dermatitis in the 21st Century. Springer, Singapore. https://doi.org/10.1007/978-981-10-5541-6_5

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  • DOI: https://doi.org/10.1007/978-981-10-5541-6_5

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