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Variations in the NMDA receptor subunit 2B gene ( GRIN2B ) and schizophrenia: A case‐control study

2004; Wiley; Volume: 128B; Issue: 1 Linguagem: Inglês

10.1002/ajmg.b.30028

1552-485X

Emilio Di Maria, Rossella Gulli, Silvia Begni, Alessandro De Luca, Stefano Bignotti, Augusto Pasini, Emilia Bellone, Antonio Pizzuti, Bruno Dallapiccola, Giuseppe Novelli, Franco Ajmar, Massimo Gennarelli, Paola Mandich,

Receptor Mechanisms and Signaling

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.