Association between the G1001C polymorphism in the GRIN1 gene promoter region and schizophrenia.
BACKGROUND
The GRIN1 gene plays a fundamental role in many brain functions, and its involvement in the pathogenesis of the schizophrenia has been widely investigated. Non-synonymous polymorphisms have not been identified in the coding regions. To investigate the potential role of GRIN1 in the susceptibility to schizophrenia, we analyzed the G1001C polymorphism located in the promoter region in a case-control association study.


METHODS
The G1001C polymorphism allele distribution was analyzed in a sample of 139 Italian schizophrenic patients and 145 healthy control subjects by a polymerase chain reaction amplification followed by digestion with a restriction endonuclease.


RESULTS
We found that the C allele may alter a consensus sequence for the transcription factor NF-kappa B and that its frequency was higher in patients than in control subjects (p =.0085). The genotype distribution also was different, with p =.034 (if C allele dominant, p =.0137, odds ratio 2.037, 95% confidence interval 1.1502-3.6076).


CONCLUSIONS
The association reported in this study suggests that the GRIN1 gene is a good candidate for the susceptibility to schizophrenia.
Begni
Silvia
S
Genetics Unit, IRCCS S. Giovanni di Dio, Fatebenefratelli, Brescia, Italy
Moraschi
Stefania
S
Bignotti
Stefano
S
Fumagalli
Fabio
F
Rillosi
Luciana
L
Perez
Jorge
J
Gennarelli
Massimo
M
D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D004198:Disease Susceptibility; D005260:Female; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D016194:Receptors, N-Methyl-D-Aspartate; D012559:Schizophrenia / Q000235:genetics*
D002352:Carrier Proteins; C485668:GRIN1 protein, human; D009419:Nerve Tissue Proteins; D016194:Receptors, N-Methyl-D-Aspartate