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Genetik des atopischen Ekzems

Neue Gene und Pathomechanismen

The genetics of atopic eczema

New genes and pathomechanisms

Zusammenfassung

Das atopische Ekzem (AE) – auch atopische Dermatitis – ist eine chronisch-entzündliche Erkrankung der Haut, zu deren Charakteristika starker Juckreiz, eine gestörten Hautbarriere und die Bildung von IgE-Antikörpern (Immunglobulin E) gegen Umweltallergene zählen. Das AE ist eine multifaktoriell-polygene Erkrankung, die genetische Prädisposition und der Einfluss von Umweltfaktoren gelten seit langem als entscheidende Auslöser. Dennoch stellt die Aufdeckung der Krankheitsursachen aufgrund der Vielzahl der beteiligten Gene und Umwelteinflüsse sowie deren möglicher Interaktionen eine enorme Herausforderung für die Wissenschaft dar. Der vorliegende Beitrag gibt einen Überblick über den aktuellen Stand der Genetik des AE, über jüngste Erfolge und mögliche Probleme. Vor allem die Identifizierung einer genetischen Ursache des Hautbarrieredefekts hat unser Verständnis des AE in den letzten Jahren entscheidend vorangebracht und könnte zu neuen Ansätzen in dessen Prävention und Therapie führen.

Abstract

Atopic eczema (AE) is a chronic inflammatory skin disease characterized by severe pruritus, a defective skin barrier, and the formation of IgE antibodies against common environmental allergens. AE is a polygenic multifactorial disease; it is widely accepted that AE is caused by environmental factors acting on genetically predisposed individuals. However, because of multiple potential gene–gene and gene–environment interactions, the challenge remains to resolve the underlying pathomechanisms. Here we review the current state of knowledge, recent advances, and potential problems in the genetics of AE. In particular, the identification of genetic factors underlying the skin barrier defect has significantly improved our understanding of the disease and might lead to novel preventive and therapeutic strategies.

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Correspondence to Y.A. Lee.

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Marenholz, I., Lee, Y. Genetik des atopischen Ekzems. medgen 21, 493 (2009). https://doi.org/10.1007/s11825-009-0198-z

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Schlüsselwörter

  • Atopische Dermatitis
  • Allergie
  • Filaggrin
  • Epidermaler Differenzierungskomplex
  • Komplexe Erkrankung

Keywords

  • Atopic dermatitis
  • Allergy
  • Filaggrin
  • Epidermal differentiation complex
  • Complex disease