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Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: a case-control study
Emilio Di Maria1, Rossella Gulli, Silvia Begni
1Department of Neuroscience, Ophthalmology and Genetics, Section of Medical Genetics, University of Genoa, c/o DIMI-Viale Benedetto XV 6, 16132 Genoa, Italy. emilio.dimaria@unige.it
Abstract:
A well established model for the pathophysiology of schizophrenia postulates a role for the NMDA-mediated glutamate transmission. The human gene coding for the 2B subunit of the NMDA receptor (GRIN2B) is considered a candidate based on its selective expression in brain. To evaluate the hypothesis that GRIN2B acts as a major gene in determining susceptibility to schizophrenia, a case-control association study was performed. Five single nucleotide polymorphisms (SNPs) were genotyped in 188 Italian patients and 156 control subjects. The association study showed a marginally significant excess of homozygosity for the polymorphism located in the 3'UTR region (P = 0.04). No other difference in genotype and allele frequencies was found in schizophrenics as compared to the control series. The case-control study was also carried out on estimated haplotypes, confirming a trend for association (P = 0.04). These results suggest that GRIN2B variations might be linked with susceptibility to schizophrenia. Replication studies on larger samples are warranted to further test this hypothesis.