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The genetics of atopic dermatitis: recent findings and future options

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Abstract

Atopic dermatitis (AD) is a chronic pruritic skin disease affecting up to 15% of children in industrialized countries. AD belongs to the group of allergic disorders that include food allergy, allergic rhinitis, and asthma. A multifactorial background for AD has been suggested, with genetic as well as environmental factors influencing disease development. Genome-wide screens for AD have been completed in four different populations to date. Interestingly, the susceptibility regions identified for AD show little overlap with asthma susceptibility regions, suggesting that, at least in part, separate genes might be involved in the pathogenesis of the different atopic disorders. Instead, some of the identified regions overlap with susceptibility regions for psoriasis, another chronic skin disease. Thus, genes expressed in the skin might play an important role in AD pathogenesis, in addition to genes influencing atopic diatheses. Although no veritable “AD gene” has been identified by positional cloning to date, examples from other complex genetic disorders such as asthma show that this goal is likely to be reached in the near future. Candidate gene studies, on the other hand, have identified 19 genes that were shown to be associated with AD in at least one study. The results of genome-wide screens as well as candidate gene studies are evaluated here in detail.

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Abbreviations

AD:

Atopic dermatitis

CE:

Cornified envelope

EDC:

Epidermal differentiation complex

IgE:

Immunoglobulin E

MHC:

Major histocompatibility complex

SNP:

Single nucleotide polymorphism

Th2:

T helper lymphocyte type 2

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Acknowledgements

This work was supported by the “Forschungsförderung der Ruhr-Universität Bochum (FoRUM)”, grant F377-03.

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  1. Department of Human Genetics, Ruhr-University, Universitätsstrasse 150, 44801, Bochum, Germany

    Sabine Hoffjan & Jörg T. Epplen

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  1. Sabine Hoffjan
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  2. Jörg T. Epplen
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Correspondence to Sabine Hoffjan.

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Hoffjan, S., Epplen, J.T. The genetics of atopic dermatitis: recent findings and future options. J Mol Med 83, 682–692 (2005). https://doi.org/10.1007/s00109-005-0672-2

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