Investigation of the human serotonin 6 (5-HT6) receptor gene in bipolar affective disorder and schizophrenia

Ina R. Vogt, Daphne Shimron-Abarbanell, Helge Neidt, Jeanette Erdmann, Sven Cichon, Thomas G. Schulze, Daniel J. Müller, Wolfgang Maier, Margot Albus, Margitta Borrmann-Hassenbach, Michael Knapp, Marcella Rietschel, Peter Propping, Markus M. Nöthen

Research output: Contribution to journalArticlepeer-review

67 Scopus citations


Serotonin (5-hydroxytryptamine, 5-HT) is a neurotransmitter that mediates a wide range of central nervous functions by activating multiple 5- HT receptor subtypes. A possible irregularity of serotonergic neurotransmission has been implicated in a variety of neuropsychiatric diseases. In the present study, we performed a systematic mutation scan of the complete coding region and splice junctions of the 5-HT6 receptor gene to explore the contribution of this gene to the development of bipolar affective disorder and schizophrenia. Investigating 137 unrelated individuals (including 45 bipolar affective patients, 46 schizophrenic patients, and 46 unrelated controls), we identified six single base substitutions (126G/T, 267C/T, 873+30C/T, 873+128A/C, 1128G/C, 1376T/G). Comparing frequencies between patients and controls, we observed a significant overrepresentation of the 267C allele among bipolar patients (P=0.023 not corrected for multiple testing). This finding was followed up in an independent sample of 105 bipolar family trios using a family-based association design. Fifty-one transmissions could be examined. In 30 cases allele 267C and in 21 cases allele 267T were transmitted to the affected offspring. Although this result was far from statistical significance (transmission disequilibrium test=1.59, P=0.208), the limited number of possible transmissions may have prevented detection of smaller effects. Our preliminary data suggest that bipolar affective disorder may be associated with variation in the 5-HT6 gene. It will be important to extend the present analysis to larger samples. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)217-221
Number of pages5
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Issue number2
StatePublished - Apr 3 2000
Externally publishedYes


  • Association study
  • Genetic variation
  • Manic depression
  • Mutation screening
  • Single-strand conformational analysis
  • Transmission disequilibrium test

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)


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