Association study of the trinucleotide repeat polymorphism within SMARCA2 and schizophrenia.
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.


CONCLUSIONS
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.
Sengupta
Sarojini
S
Department of Human Genetics, McGill University, Montreal, Canada. sarojini.sengupta@douglas.mcgill.ca
Xiong
Lan
L
Fathalli
Ferid
F
Benkelfat
Chawki
C
Tabbane
Karim
K
Danics
Zoltan
Z
Labelle
Alain
A
Lal
Samarthji
S
Krebs
Marie-Odile
MO
Rouleau
Guy
G
Joober
Ridha
R
D016022:Case-Control Studies; D005819:Genetic Markers; D006801:Humans; D012150:Polymorphism, Restriction Fragment Length; D012559:Schizophrenia / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D018911:Trinucleotide Repeats
D005819:Genetic Markers; C084011:SMARCA2 protein, human; D014157:Transcription Factors