Please cite this article as follows: Gutiérrez B, Rosa A, Papiol S, Arrufat FJ, Catalán R, Salgado P, Peralta V, Cuesta MJ, Fañanás L. 2007. Identification of Two Risk Haplotypes for Schizophrenia and Bipolar Disorder in the Synaptic Vesicle Monoamine Transporter Gene (SVMT). Am J Med Genet Part B 144B:502–507.
Identification of two risk haplotypes for schizophrenia and bipolar disorder in the synaptic vesicle monoamine transporter gene (SVMT)†
Article first published online: 10 APR 2007
Copyright © 2007 Wiley-Liss, Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Volume 144B, Issue 4, pages 502–507, 5 June 2007
How to Cite
Gutiérrez, B., Rosa, A., Papiol, S., Arrufat, F. J., Catalán, R., Salgado, P., Peralta, V., Cuesta, M. J. and Fañanás, L. (2007), Identification of two risk haplotypes for schizophrenia and bipolar disorder in the synaptic vesicle monoamine transporter gene (SVMT). Am. J. Med. Genet., 144B: 502–507. doi: 10.1002/ajmg.b.30499
- Issue published online: 24 MAY 2007
- Article first published online: 10 APR 2007
- Manuscript Accepted: 28 DEC 2006
- Manuscript Received: 20 JUN 2006
- Theodore and Vada Stanley Foundation
- Ministerio de Educación y Ciencia. Grant Numbers: SAF 2001-3400, SAF 2004-01310
- SVMT gene;
- risk haplotype;
- bipolar disorder;
- case-control study
The synaptic vesicular monoamine transporter (SVMT) plays a key role in monoaminergic neurotransmission determining the size of neurotransmitter vesicular pools available for exocytotic release. Recently, several lines of evidence have suggested that altered functions of SVMT may be involved in the pathogenesis of certain neuropsychiatric diseases, including psychotic and mood disorders. In the present study, we tested the potential involvement of SVMT gene variants in the etiology of schizophrenia and bipolar disorder. Five different SNPs (T440G, C1368T, T2666C, A2683C, and A745G) were included in the analysis covering a region of about 35 kb along the SVMT gene. Analyses were performed in a case-control sample consisting of 88 bipolar patients, 107 subjects with schizophrenia, and 164 controls. Two risk haplotypes for both schizophrenia and bipolar disorder in SVMT gene were identified. Particularly, 2666T-2683A-745G (TAG) and 2666C-2683C-745A (CCA) combinations were significantly more frequent in both bipolar and schizophrenic patients than in controls. UNPHASED package estimated haplotype effects for all patients yielded relative risks of 4.1 (95%CI: 1.83–9.21) for TAG combination and 2.336 (95%CI: 1.28–4.26) for CCA haplotype. Conversely, 2666T-2683C-745A (TCA) and 2666C-2683A-745G (CAG) haplotypes seemed to protect against these mental disorders, since the estimated frequency in control chromosomes was 12% whilst such haplotypes were not observed in any bipolar or schizophrenic subject (P < 0.0000). Our results strongly suggest that SVMT gene or certain regions of it may constitute a genetic substrate of susceptibility for both schizophrenia and bipolar disorder. © 2007 Wiley-Liss, Inc.