Brief Research Communication
Investigation of the human serotonin receptor gene HTR3B in bipolar affective and schizophrenic patients
Article first published online: 6 JUL 2004
Copyright © 2004 Wiley-Liss, Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Volume 131B, Issue 1, pages 1–5, 15 November 2004
How to Cite
Frank, B., Niesler, B., Nöthen, M. M., Neidt, H., Propping, P., Bondy, B., Rietschel, M., Maier, W., Albus, M. and Rappold, G. (2004), Investigation of the human serotonin receptor gene HTR3B in bipolar affective and schizophrenic patients. Am. J. Med. Genet., 131B: 1–5. doi: 10.1002/ajmg.b.30070
- Issue published online: 25 OCT 2004
- Article first published online: 6 JUL 2004
- Manuscript Accepted: 13 APR 2004
- Manuscript Received: 8 SEP 2003
- serotonin receptor gene;
- mutational analysis;
- bipolar affective disorder;
The neurotransmitter serotonin (5-hydroxytryptamine, 5-HT) mediates a multitude of central nervous functions by activating 5-HT receptor subtypes. A dysfunction of serotonergic neurotransmission is considered to play a major role in the pathophysiology of complex neuropsychiatric disorders. In our study, a mutation screen of the serotonin receptor gene HTR3B was carried out to explore a putative contribution to the etiology of bipolar affective disorder (BPAD) and schizophrenia (SZ). Screening of 49 patients suffering from BPAD, 78 patients with SZ and 62 control individuals revealed eleven sequence variations including a 3 bp deletion within the 5′UTR (5′ untranslated region), four exonic and five intronic SNPs as well as a point mutation in the 3′UTR of HTR3B. Four of these sequence variations have not been described previously. Statistical computation rated most variants as probably non-disease related polymorphisms. However, IVS6 + 31C > T, IVS6 + 40C > A, and 1386T > C were solely detected in bipolar affective patients and in none of the controls. Interestingly, we observed a significant underrepresentation of the 3 bp deletion −100_−102delAAG in an extended sample of 162 bipolar affected patients compared to controls (allele-wise: 8% vs. 15%, P = 0.006, OR = 0.49, 95% CI: 0.3–0.82; genotype-wise: 15,5% vs. 29,0%, P = 0.005, OR = 0.45, 95% CI: 0.26–0.77). We suggest that this deletion may influence translational efficiency, thereby possibly affecting the development of bipolar affective disease. © 2004 Wiley-Liss, Inc.