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

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 s...

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Published in:American journal of medical genetics 2000-04, Vol.96 (2), p.217-221
Main Authors: Vogt, Ina R., Shimron-Abarbanell, Daphne, Neidt, Helge, Erdmann, Jeanette, Cichon, Sven, Schulze, Thomas G., Müller, Daniel J., Maier, Wolfgang, Albus, Margot, Borrmann-Hassenbach, Margitta, Knapp, Michael, Rietschel, Marcella, Propping, Peter, Nöthen, Markus M.
Format: Article
Language:English
Subjects:
Adult and adolescent clinical studies
association study
Biological and medical sciences
Bipolar Disorder - genetics
Bipolar Disorder - metabolism
Bipolar disorders
DNA Mutational Analysis
Exons - genetics
Female
genetic variation
Genetic Variation - genetics
Humans
Introns - genetics
Linkage Disequilibrium - genetics
Male
manic depression
Medical genetics
Medical sciences
Mental and behavioral disorders
Mood disorders
mutation screening
Polymorphism, Single-Stranded Conformational
Psychology. Psychoanalysis. Psychiatry
Psychopathology. Psychiatry
Receptors, Serotonin - genetics
Schizophrenia - genetics
Schizophrenia - metabolism
single-strand conformational analysis
transmission disequilibrium test
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Summary: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. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:217–221, 2000. © 2000 Wiley‐Liss, Inc.
ISSN:0148-7299
1096-8628
DOI:10.1002/(SICI)1096-8628(20000403)96:2<217::AID-AJMG17>3.0.CO;2-0