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Genetik der rheumatoiden Arthritis

Genetics of rheumatoid arthritis

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Zeitschrift für Rheumatologie Aims and scope Submit manuscript

Zusammenfassung

Der Einfluss genetischer Faktoren auf die Erkrankungssuszeptibilität und den klinischen Verlauf der rheumatoiden Arthritis (RA) ist seit Langem bekannt, entzog sich jedoch bisher einer umfassenden, genomweiten Analyse. Neue Typisierungstechnologien sowie die Verfügbarkeit großer internationaler Konsortien mit großen Patientenkohorten waren ausschlaggebend für den raschen Erkenntniszuwachs über die genetischen Grundlagen der RA, welcher in den letzten Jahren zu einer zunehmenden Verknüpfung immungenetischer Assoziationen mit immunologischen Konzepten der Pathogenese der Erkrankung geführt hat. Neue, gesicherte Erkenntnisse über die Erkrankungsassoziation von Genen, die in die Signaltransduktion immunkompetenter Zellen eingebundenen sind, rücken spezifische Mechanismen sowie die beteiligten Zellpopulationen in den Fokus des Interesses. Genetische Erkenntnisse und ihre Auswirkungen auf aktuelle Pathogenesemodelle der RA werden diskutiert.

Abstract

Genetic influences on susceptibility to and clinical course of rheumatoid arthritis have been known for a long time, but have so far eluded systematic, genome-wide analysis. In recent years, the availability of new typing techniques and international consortia with large patient cohorts has generated a wealth of new information on the genetic basis of this autoimmune disease. Newly described associations between immunologically relevant gene polymorphisms and RA susceptibility have already been replicated with great statistical power, and are currently incorporated into new, pathogenetically relevant functional pathways. The resulting new concepts identify cell populations of great potential relevance for the pathogenesis of the disease, and ultimately might lead to new diagnostic and therapeutic approaches in RA.

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  1. Medizinische Klinik IV, Universitätsklinikum Leipzig, Liebigstr. 20, 04103, Leipzig, Deutschland

    U. Wagner M.D.

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Wagner, U. Genetik der rheumatoiden Arthritis. Z. Rheumatol. 70, 186–191 (2011). https://doi.org/10.1007/s00393-010-0690-5

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