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Die Genetik der bipolaren Störung

Genetics of bipolar disorder

Zusammenfassung

Mit einer Lebenszeitprävalenz von 0,5–1,5% ist die bipolare (manisch-depressive) Störung eine in der Bevölkerung häufige psychiatrische Krankheit. Familien-, Zwillings- und Adoptionsuntersuchungen belegen, dass genetische Faktoren an der Krankheitsentstehung beteiligt sind. Genomweite Kopplungsuntersuchungen haben chromosomale Regionen nachgewiesen, in denen sich mit großer Wahrscheinlichkeit Krankheitsdispositionsgene befinden. Meta-Analysen deuten aber darauf hin, dass die Effekte der einzelnen Loci relativ begrenzt sind, was möglicherweise die Schwierigkeiten bei dem nachfolgenden Schritt der Genidentifizierung erklärt. In jüngster Zeit versprechen genomweite Assoziationsuntersuchungen unter Verwendung hunderttausender „single nucleotide polymorphisms“ (SNPs) in großen, phänotypisch gut charakterisierten Kohorten von Patienten und Kontrollen entscheidende Durchbrüche bei der Suche nach den beteiligten Genen.

Abstract

With a life-time prevalence of about 0.5–1.5%, bipolar (manic depressive) disorder represents a common psychiatric disease. Family, twin, and adoption studies have consistently shown that genetic factors contribute to disease development. Genome-wide linkage studies have detected chromosomal regions that are very likely to harbor predisposing genes. Meta-analyses suggest, however, that the genetic contribution of the individual loci must be relatively small which could be one reason for the difficulties in identifying the genes responsible. Very recently, genome-wide association analyses, investigating hundreds of thousands of single nucleotide polymorphisms (SNPs) in phenotypically well-characterized patient and control cohorts, promise a major breakthrough in search of disease-associated genes.

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Cichon, S., Rietschel, M. Die Genetik der bipolaren Störung. medgen 19, 335–341 (2007). https://doi.org/10.1007/s11825-007-0044-0

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Schlüsselwörter

  • Affektive Störungen
  • Manische Depression
  • Komplexe Erkrankungen
  • Kopplungsuntersuchungen
  • Assoziationsuntersuchungen
  • Vulnerabilitätsgene

Keywords

  • Affective disorders
  • Manic depression
  • Complex diseases
  • Linkage studies
  • Association studies
  • Susceptibility genes