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Genetics of Atopic Dermatitis

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Practical Insights into Atopic Dermatitis

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Abstract

Atopic dermatitis (AD) is a chronic inflammatory skin disease presenting severe pruritus. AD has a complex pathogenesis related to altered skin barrier and abnormal immune response leading to a Th2-dominance. AD can be hereditable with complex trait. Although identifying the genetic factors of a complex disease is not easy, recent developed molecular biology has made great strides such as the genome-wide studies including linkage analysis or association study and the candidate genes association studies. In this chapter, skin barrier-related genetic mutations include FLG, SPINK5, and KLK7. Immune response-related genetic mutations include pattern-recognition receptors, antimicrobial peptides, IL-1 family cytokines, thymic stromal lymphopoietin, and Th2 cytokines such as IL-4, IL-5, IL-13, IL-4Rα, IL-5Rα, and IL-13Rα.

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  1. Department of Dermatology, Yonsei University Wonju College of Medicine, Wonju, Korea (Republic of)

    Eung Ho Choi

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  1. Department of Dermatology, Yonsei University College of Medicine, Seoul, Korea (Republic of)

    Kwang Hoon Lee

  2. Department of Dermatology, Yonsei University Wonju College of Medicine, Wonju, Korea (Republic of)

    Eung Ho Choi

  3. Department of Dermatology, Yonsei University College of Medicine, Seoul, Korea (Republic of)

    Chang Ook Park

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Choi, E.H. (2021). Genetics of Atopic Dermatitis. In: Lee, K.H., Choi, E.H., Park, C.O. (eds) Practical Insights into Atopic Dermatitis. Springer, Singapore. https://doi.org/10.1007/978-981-15-8159-5_6

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