Association study of the trinucleotide repeat polymorphism within SMARCA2 and schizophrenia.
Sengupta S,
Xiong L,
Fathalli F,
Benkelfat C,
Tabbane K,
Danics Z,
Labelle A,
Lal S,
Krebs MO,
Rouleau G,
Joober R.
Department of Human Genetics, McGill University, Montreal, Canada. sarojini.sengupta@douglas.mcgill.ca
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.
PMID: 16749937 [PubMed - indexed for MEDLINE]
PMCID: PMC1523194