Zusammenfassung
Genetisch epidemiologische Studien dienen der Abschätzung der Bedeutung von genetischen Faktoren für die Entwicklung einer Krankheit, einer Störung oder eines anderen Merkmals. Klassische Studiendesigns ohne den Einsatz genetischer Marker sind Zwillingsstudien, Familienstudien und Adoptionsstudien. Diese Studien erlauben jedoch nur die Abschätzung einer vorhandenen Erblichkeit, nicht aber die Identifizierung von krankheitsrelevanten Genen. Assoziations- und Kopplungsuntersuchungen nutzen hingegen genetische Marker, um den Zusammenhang zwischen Auftreten eines Markers und einer Erkrankung in Populationen oder in Familien bzw. Stammbäumen festzustellen und so krankheitsrelevante Gene zu identifizieren. Im folgenden werden die Ergebnisse aus den publizierten Zwillingsstudien, Familienstudien, Kopplungs- und Assoziationsuntersuchungen zur Alzheimer Demenz (AD) dargestellt und im Hinblick auf ihre klinische Relevanz diskutiert. Adoptionsstudien zur AD wurden bisher nicht publiziert.
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Heun, R., Papassotiropoulos, A. (1999). Genetik der Alzheimer Demenz. In: Förstl, H., Bickel, H., Kurz, A. (eds) Alzheimer Demenz. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-60228-3_3
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