Open Access Research article

Association study of the trinucleotide repeat polymorphism within SMARCA2 and schizophrenia

Sarojini Sengupta12, Lan Xiong34, Ferid Fathalli24, Chawki Benkelfat3, Karim Tabbane5, Zoltan Danics6, Alain Labelle7, Samarthji Lal23, Marie-Odile Krebs8, Guy Rouleau4 and Ridha Joober123*

Author Affiliations

1 Department of Human Genetics, McGill University, Montreal, Canada

2 Douglas Hospital Research Centre, Montreal, Canada

3 Department of Psychiatry, McGill University, Montreal, Canada

4 Center for the Study of Brain Diseases, Notre Dame Hospital, Montreal, Canada

5 Department of Psychiatry, University of Tunis, Tunis, Tunisia

6 National Institute of Psychiatry, Budapest, Hungary

7 Department of Psychiatry, University of Ottawa, Ottawa, Canada

8 Service Hospitalo-Universitaire, Hôpital Sainte-Anne, Paris, France

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BMC Genetics 2006, 7:34  doi:10.1186/1471-2156-7-34

Published: 3 June 2006

Abstract

Background

Brahma (BRM) is a key component of the multisubunit SWI/SNF complex, a complex which uses the energy of ATP hydrolysis to remodel chromatin. BRM contains an N-terminal polyglutamine domain, encoded by a polymorphic trinucleotide (CAA/CAG) repeat, the only known polymorphism in the coding region of the gene (SMARCA2). We have examined the association of this polymorphism with schizophrenia in a family-based and case/control study. SMARCA2 was chosen as a candidate gene because of its specific role in developmental pathways, its high expression level in the brain and some evidence of its association with schizophrenia spectrum disorder from genome-wide linkage analysis.

Results

Family-based analysis with 281 complete and incomplete triads showed that there is no significant preferential transmission of any of the alleles to the affected offspring. Also, in the case/control analysis, similar allele and genotype distributions were observed between affected cases (n = 289) and unaffected controls (n = 273) in each of three Caucasian populations studied: French Canadian, Tunisian and other Caucasians of European origin.

Conclusion

Results from our family-based and case-control association study suggest that there is no association between the trinucleotide repeat polymorphism within SMARCA2 and schizophrenia.