Fortschr Neurol Psychiatr 2013; 81(5): 240-242
DOI: 10.1055/s-0033-1335157
Übersicht
© Georg Thieme Verlag KG Stuttgart · New York

Phänotypbasierte genetische Assoziationsstudien (PGAS): Ein neuer Ansatz zum Verständnis des Genotyp-Beitrags zu schizophrenen Phänotypen

Phenotype-Based Genetic Association Studies (PGAS): A New Approach to Understanding the Genotype Contribution to Schizophrenic Phenotypes
H. Ehrenreich
Further Information

Publication History

29 November 2012

18 February 2013

Publication Date:
21 May 2013 (online)

Zusammenfassung

Schizophrenien werden rein klinisch diagnostiziert. Die biologische Basis dieses Krankheitsbilds ist noch immer völlig unklar. Genetische Studien haben interessante Hinweise erbracht, jedoch nicht zur Identifizierung von Krankheitsgenotypen im eigentlichen Sinne geführt. Im Gegenteil: Es wird immer wahrscheinlicher, dass die unterschiedlichsten genotypischen Konstellationen im Zusammenwirken mit mannigfaltigen Umweltfaktoren Schizophrenien auslösen können, getreu dem Motto: „Viele Wege führen nach Rom…“ Daher sind neue Strategien erforderlich, die bessere Einblicke in die komplexen Genotyp-Phänotyp Zusammenhänge erlauben, beispielsweise PGAS (phänotypbasierte genetische Assoziationsstudien). PGAS wurde erst möglich auf der Grundlage der Göttinger Research Association for Schizophrenia (GRAS)-Datenkollektion, der bislang weltweit umfangreichsten phänotypischen Datenbank schizophrener Patienten. Erste PGAS Proof-of-Concept Ergebnisse zu kognitions- und entwicklungsrelevanten Genen liegen bereits vor.

Abstract

Schizophrenias are diagnosed purely clinically. The biological basis for this clinical entity is still fully unknown. Genetic studies have revealed some interesting hints but have not led to the identification of actual disease genotypes. On the contrary, it has become more and more probable that widely differing genotype constellations together with manifold environmental factors can trigger schizophrenia according to the motto “many roads lead to Rome...”. Thus, new strategies that allow a better insight into complex genotype-phenotype relationships, e. g. PGAS (phenotype-based genetic associations studies) are urgently needed. PGAS became possible on the basis of the GRAS data collection, the as yet largest worldwide phenotypical databank of schizophrenic patients. First PGAS proof-of-concept results on cognition or development-relevant genes are already available.

 
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