Research article

Association study of the trinucleotide repeat polymorphism within SMARCA2 and schizophrenia

Sarojini Sengupta^1,2 , Lan Xiong^3,4 , Ferid Fathalli^2,4 , Chawki Benkelfat³ , Karim Tabbane⁵ , Zoltan Danics⁶ , Alain Labelle⁷ , Samarthji Lal^2,3 , Marie-Odile Krebs⁸ , Guy Rouleau⁴ and Ridha Joober^1,2,3

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

author email corresponding author email

BMC Genetics 2006, 7:34doi: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.