Molecular mechanisms in atopic eczema: insight gained from genetic studies

Sara J. Brown (Lead / Corresponding author)

    Research output: Contribution to journalReview article

    21 Citations (Scopus)
    171 Downloads (Pure)

    Abstract

    Atopic eczema (synonymous with atopic dermatitis and eczema) is a common heterogeneous phenotype with a wide spectrum of severity from mild transient disease to a severe chronic disorder with atopic and non-atopic co-morbidities. Eczema is a complex trait, resulting from the interaction of multiple genetic and environmental factors. The skin, as an organ that can be biopsied easily, provides opportunities for detailed molecular genetic analysis. Strategies applied to the investigation of atopic eczema include candidate gene and genome-wide studies, extreme phenotypes and comparative analysis of inflammatory skin diseases. Genetic studies have identified a central role for skin barrier impairment in eczema predisposition and perpetuation; this has brought about a paradigm shift in understanding atopic disease but specific molecular targets to improve skin barrier function remain elusive. The role of Th2-mediated immune dysfunction is also central to atopic inflammation and has proved to be a powerful target for biological therapy in atopic eczema. Advances in understanding eczema pathogenesis have provided opportunities for patient stratification, primary prevention and therapy development, but there remain considerable challenges in the application of this knowledge to optimise benefit for patients with atopic eczema in the era of personalised medicine.
    Original languageEnglish
    Pages (from-to)140-145
    Number of pages6
    JournalJournal of Pathology
    Volume241
    Issue number2
    Early online date23 Sep 2016
    DOIs
    Publication statusPublished - Jan 2017

    Keywords

    • Atopic eczema
    • dermatitis
    • filaggrin
    • genome-wide
    • phenotype
    • skin barrier
    • therapy
    • transcriptome

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