Zusammenfassung
Es gibt mittlerweile stringente Belege aus Familien-, Zwillings- und Adoptionsstudien,
die den wesentlichen genetischen Anteil der Erkrankung Schizophrenie beschreiben.
Die Art der Übertragung ist allerdings sehr kompliziert und umfasst wenn überhaupt
nur sehr selten ein einzelnes Gen. Vielmehr gründet sich die Schizophrenie auf zahlreiche
Gene mit geringen Effekten und deren Zusammenspiel mit der Umwelt. Da aber die Gesamtgröße
des genetischen Effektes für 80 % der Varianz verantwortlich ist, ist es schwierig,
eindeutige Umweltfaktoren festzulegen. Lange Zeit herrschte sogar die Vorstellung
vor, dass der Bereich der Umwelt vollständig aus epigenetischen bzw. stochastischen
Phänomenen besteht, die mit den bekannten epidemiologischen Methoden nicht entdeckt
werden könnten. Nichtsdestotrotz beeinflussen eine Vielzahl von sozialen Stressoren,
z. B. „high-expressed emotion”-Verhalten bei Verwandten Schizophrener und wichtige
Lebensereignisse den Verlauf der Erkrankung Schizophrenie und es ist bekannt, dass
bestimmte körperliche Faktoren wie Geburtskomplikationen und Cannabismissbrauch auch
zu einer Anfälligkeit für diese Erkrankung beitragen. Die jüngste Entdeckung verschiedener
Kandidatengene der Schizophrenie lässt nicht nur auf ein besseres Verstehen der Neurobiologie
dieser Erkrankung hoffen, sondern auch auf eine verbesserte Kenntnis hinsichtlich
Risikoeinschätzung und Gen/Umwelt - Wechselwirkungen.
Abstract
There is compelling evidence from family, twin and adoption studies of a substantial
genetic contribution to schizophrenia. The mode of transmission is complicated and
very rarely if ever involves a single gene. Rather schizophrenia results from multiple
genes of small effect and their interplay with the environment. Perhaps because the
overall size of the genetic effect is large, accounting for about 80 % of variance,
definite environmental factors have been difficult to pin down. It has even been suggested
that „the environment” consists entirely of epigenetic or stochastic phenomena that
can never be detected by a standard epidemiological methods. Nevertheless, a variety
of social stressors, including high expressed emotion in relatives and life events
affect the course of illness and certain physical factors such as obstetric complications
and cannabis smoking have been implicated in contributing to liability to the disorder.
The recent discovery of several positional candidate genes that have been replicated
as being associated with liability to schizophrenia holds considerable promise not
just for a better understanding of the neurobiology but also for improved knowledge
about risk prediction and gene-environment interplay.
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Prof. Peter McGuffin
Social, Genetic and Developmental Psychiatry Centre · Institute of Psychiatry London
Box PO80, De Crespigny Park, London SE5 8AF · Great Britain