Zusammenfassung
Die Sarkoidose ist eine multifaktorielle und polygene Erkrankung. Im vorliegenden Beitrag wird der genetische Kenntnisstand dargestellt. Zudem werden die funktionellen Konsequenzen im aktuellen Konzept der Immunpathogenese diskutiert. Es ist zu erwarten, dass sich aus diesen Kenntnissen in naher Zukunft klinisch anwendbare genetische Risikoprofile ergeben werden.
Abstract
Sarcoidosis is a multifactorial and polygenic disorder. The current knowledge of its genetic basis will be presented and functional consequences of the genetic variants that influence the immunopathogenesis of this disorder will be depicted. In the near future it is expected that this knowledge will yield clinically applicable genetic risk profiles.
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Interessenkonflikt. A. Fischer, G. Zissel, A. Nebel und J. Müller-Quernheim geben an, dass kein Interessenkonflikt besteht. Dieser Beitrag beinhaltet keine Studien an Menschen oder Tieren.
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Diese Arbeit wurde unterstützt durch das Nationale Genomforschungsnetzwerk (01GSS0426) und die Deutsche Forschungsgemeinschaft (MU692/7-1 und 8-1).
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Fischer, A., Zissel, G., Nebel, A. et al. Genetisches Risikoprofil der Sarkoidose. Internist 55, 135–140 (2014). https://doi.org/10.1007/s00108-013-3308-6
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DOI: https://doi.org/10.1007/s00108-013-3308-6
Schlüsselwörter
- Multifaktorielle Vererbung
- Genetische Assoziationsstudien
- Genetische Kopplungsanalysen
- Risikoprofile
- Immunpathogenese