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Genetik der Schilddrüsenautoimmunität – Update und klinische Relevanz

Genetics of Thyroid Autoimmunity – Update and Clinical Relevance

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Zusammenfassung

Die autoimmunen Schilddrüsenerkrankungen mit den Hauptvertretern Morbus Basedow und Hashimoto-Thyreoiditis gehören zu den häufigsten Autoimmunerkrankungen überhaupt. Genetische Faktoren spielen eine entscheidende Rolle in der Ätiologie dieser Erkrankungen, und in den letzten Jahren konnten mehrere Risikogene identifiziert werden. Dabei handelt es sich einerseits um immunregulatorische Gene wie Gene der HLA-Klasse II, das CTLA-4-Gen und das PTPN22-Gen und andererseits um schilddrüsenspezifische Gene für den TSH-Rezeptor und das Thyreoglobulin. Obwohl dies zu einem besseren Verständnis der Pathogenese der autoimmunen Schilddrüsenerkrankungen geführt hat, wurde die klinische Relevanz der neuen Erkenntnisse bislang nur unzureichend diskutiert. Deshalb gibt diese Übersicht ein Update der relevanten Risikogene für die Autoimmunität der Schilddrüse und diskutiert ihre Bedeutung für die klinische Arbeit.

Abstract

The autoimmune thyroid diseases with the main phenotypes Graves’ disease and Hashimoto’s thyroiditis belong to the most frequently occurring autoimmune diseases. Genetic factors play a major role in their etiology, and in the past a couple of susceptibility genes have been identified. These are immunoregulatory genes like the HLA class II genes, the CTLA-4 gene and the PTPN22 gene and thyroid-specific genes for the TSH receptor and thyroglobulin. Even though this knowledge contributed to a better understanding of the pathogenesis of the autoimmune thyroid diseases, up to now the clinical relevance has been discussed insufficiently. Hence, this review provides an update of all relevant susceptibility genes for thyroid autoimmunity and discusses their significance for the clinical work.

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Authors and Affiliations

  1. I. Medizinische Klinik und Poliklinik, Johannes-Gutenberg-Universität Mainz, Mainz, Germany

    Georg Dultz &  George J. Kahaly

  2. Abteilung für Humanbiologie, Christian-Albrechts-Universität zu Kiel, Kiel, Germany

    Manuela Dittmar

  3. I. Medinische Klinik und Poliklinik der Johannes-Gutenberg-Universität, 55101, Mainz, Germany

    George J. Kahaly

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  1. Georg Dultz
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  2. Manuela Dittmar
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Correspondence to George J. Kahaly.

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Dultz, G., Dittmar, M. & Kahaly, G.J. Genetik der Schilddrüsenautoimmunität – Update und klinische Relevanz. Med Klin 104, 210–219 (2009). https://doi.org/10.1007/s00063-009-1034-6

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