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Genetik der atopischen Dermatitis

Genetics of atopic dermatitis

  • Atopische Dermatitis
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Zusammenfassung

Die atopische Dermatitis (AD) ist eine häufige multifaktorielle Hauterkrankung mit starkem genetischem Hintergrund. Störungen in der epidermalen Barriere nehmen pathophysiologisch eine zentrale Stellung ein und sind teils zurückzuführen auf Null-Mutationen im Filaggrin-kodierenden Gen (FLG), einem essenziellen Strukturprotein des Stratum corneum. Eine gestörte Barrierefunktion ist eng verknüpft mit chronischer Immunaktivierung in der Haut im Zuge einer systemischen allergischen Reaktion. Es bestehen aber auch Abnormalitäten in den Immunantworten selbst. So konnten in den letzten Jahren, vor allem mittels genomweiter Studien, multiple, mit AD assoziierte Gene identifiziert werden, die unter anderem an Aufbau und Funktion der Hautbarriere, an der epidermalen Proliferation sowie Differenzierung, am Lipidmetabolismus und an der Immunantwort beteiligt sind. In diesem Artikel diskutieren wir die rezenten Erkenntnisse aus dem Bereich der Genetik der atopischen Dermatitis, ihre pathophysiologischen Konsequenzen und mögliche therapeutische Anwendungen.

Abstract

Atopic dermatitis is a common multifactorial skin disease showing a strong genetic background. A widespread abnormality in cutaneous barrier function seems to be pivotal in the pathogenesis, mainly attributed to loss-of-function mutations in the gene encoding filaggrin (FLG) that plays a decisive role in the skin barrier formation. A defective permeability barrier is strongly linked to chronic immune activation in the skin during systemic allergic reactions. Additionally, there are also abnormalities in the immune response itself. In recent years genome-wide association studies have enabled the identification of multiple genes involved in the formation and function of the cutaneous barrier, epidermal proliferation and differentiation, cutaneous lipid metabolism and in the response of the immune system. In this article we discuss recent genetic findings, their pathophysiological consequences and potential therapeutic implications.

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  1. Abteilung für Dermatologie, Univ. Klinikum Salzburg, Müllner Hauptstraße 48, 5020, Salzburg, Österreich

    Christine Prodinger,  Johann Bauer &  Martin Laimer

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  1. Christine Prodinger
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  2. Johann Bauer
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Correspondence to Johann Bauer.

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Prodinger, C., Bauer, J. & Laimer, M. Genetik der atopischen Dermatitis. hautnah 14, 40–46 (2015). https://doi.org/10.1007/s12326-014-0138-9

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