Analysis of Synapsin III –196 Promoter Mutation in Schizophrenia and Bipolar Disorder

Vol. 53, No. 2, 2006

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Original Paper

Analysis of Synapsin III -196 Promoter Mutation in Schizophrenia and Bipolar Disorder
Herbert M. Lachman^a, Pavla Stopkova^b, Demitri F. Papolos^a, Erika Pedrosa^a, Benjamin Margolis^a, Maryam Rafael Aghalar^a, Takuya Saito^a

^aDepartment of Psychiatry and Behavioral Sciences, Division of Psychiatry Research, Albert Einstein College of Medicine, Bronx, N.Y., USA, and
^bPsychiatric Center, Prague, Czech Republic

Address of Corresponding Author

Neuropsychobiology 2006;53:57-62 (DOI: 10.1159/000091720)

Key Words

POU family of transcription factors
Oct-1
Chromosome 22
22q12-q13
Schizophrenia
Synaptic vesicle
Octamer

Abstract

Background: The 22q13-linked gene synapsin III is a positional candidate gene for schizophrenia (SZ). One interesting synapsin III single nucleotide polymorphism (SNP), -196G/A, has been identified in the promoter region. The -196A allele results in a 6/8 base match to the core recognition octamer sequence for Oct-1, a member of the POU family of transcription factors. Objective: To determine whether or not the -196 SNP is associated with either SZ or bipolar disorder (BD). Methods: A case control comparison was used to determine whether or not differences in allele or genotype distribution occurred in patients with SZ and BD. Electromobility gel shift assay (EMSA) was used to determine whether the -196 SNP affected protein binding. Results: A trend towards significance was detected when the allele distribution was analyzed in Caucasian patients with SZ (n = 145; 191 controls) and a cohort of subjects from the Czech Republic with BD (n = 82; 94 controls). No association was found in bipolar patients from the United States (n = 127) or in African-American patients with SZ (n = 124; 133 controls). EMSA showed that the region encompassing the -196 SNP binds to a brain protein in an allele-specific manner. Conclusions: These data, while inconclusive, suggest that -196 SNP should be further investigated as a candidate for 22q13-linked SZ.

Author Contacts

Herbert M. Lachman
Albert Einstein College of Medicine
1300 Morris Park Avenue
Bronx, N.Y. 10461 (USA)
Tel. +1 718 430 2428, Fax +1 718 430 8772, E-Mail Lachman@aecom.yu.edu

Article Information

Received: December 9, 2004
Accepted after revision: July 24, 2005
Published online: February 23, 2006
Number of Print Pages : 6
Number of Figures : 0, Number of Tables : 4, Number of References : 37

Medline Abstract (ID 16511335)

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