Zusammenfassung
Psoriasis ist eine chronische, entzündliche Hauterkrankung mit einer multifaktoriellen Vererbung. Als wichtigster Risikofaktor gilt derzeit das HLA-CW0602-Allel [bzw. ein Faktor in starkem LD („linkage disequilibrium“)], das insbesondere für die frühere Manifestationsform (< 40. Lebensjahr) prädisponiert und u. a. einen Einfluss auf die Schwere des Verlaufs hat. Durch genomweite Kopplungsanalysen konnten bisher 11 weitere Suszeptibilitätsloci, jedoch nur wenige Kandidatengene identifiziert werden, alle mit vergleichsweise geringem relativem Risiko (Odds-Ratio, OR). Weitere Aspekte der komplexen Ätiopathogenese dieser Erkrankung konnten in immunologischen Ansätzen, aufgrund von Therapieerfolgen mit Antikörpern gegen immunrelevante Moleküle und bei kandidatengenorientierten Assoziationsstudien aufgeklärt werden. Die pathophysiologischen und genetischen Befunde konvergieren zunehmend und zeichnen die Psoriasis als Erkrankung eines fehlgesteuerten immunologischen Regulationsprozesses zwischen Keratinozyten und Zellen des angeborenen und erworbenen Immunsystems aus.
Abstract
Psoriasis is a complex inflammatory and cutaneous disorder with complex inheritance. Currently, the most important risk factor is HLA-CW0602 (and/or a factor in strong linkage disequilibrium with it). This risk allele particularly predisposes to early manifestation (<40 years) and affects the clinical course. To date, genome-wide linkage studies have provided 11 susceptibility loci, while only a few candidate genes have been identified, which bear comparably small odd ratios. Immunological approaches, therapeutic studies with antibodies against immunologic molecules, and candidate-gene-oriented association studies could delineate more aspects of the complex etiology of psoriasis. Increasingly, pathophysiologic and genetic findings converge, giving evidence that psoriasis can be characterized by misdirected immunologic regulation processes of keratinocytes and cells of the inborn and adaptive immune system.
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Reis , A., Hüffmeier, U. Genetik der Psoriasis. medgen 19, 350–355 (2007). https://doi.org/10.1007/s11825-007-0034-2
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DOI: https://doi.org/10.1007/s11825-007-0034-2