Glutamate hypothesis of schizophrenia: No evidence that the N-Methyl-D-Aspartate receptor 2B gene (GRIN2B) is associated with susceptibility to schizophrenia

E. Di Maria, R. Gulli, R. Pioli, A. De Luca, G. Novelli, M. Gennarelli, P. Mandich

Research output: Contribution to journalArticlepeer-review

Abstract

The pathophysiological model of schizophrenia based on an NMDAR-mediated glutamate hypofunction was raised by the psychotomimetic effects induced by administration of non-competitive NMDAR antagonists. Animal models further supported this hypothesis. Functional NMDARs are composed of the ubiquitous NR1 subunit and one of four NR2 subunits. The human 2B subunit gene, named GRIN2B, is expressed in brains in the hyppocampus, basal ganglia and cerebral cortex. We tested the hypothesis that the genetic background of GRIN2B is associated with susceptibility to schizophrenia. A panel of nine polymorphisms was identified through "in silico" analysis and direct sequencing of a sample series. Subsequently, five informative polymorphisms (allele frequencies > 1%) were genotyped on a series of 160 unrelated patients who satisfied DSM-IV criteria for schizophrenia, and compared with normal subjects. A preliminary analysis on a subset of patients has showed a difference in allele frequencies of one SNP between patients and controls. Conversely, the case-control study on the whole series failed to reveal any significant difference in allele and genotype frequencies. The haplotype analysis confirmed this finding. A possible role for GRIN2B gene in the development of schizophrenia might be eventually due to variations in its expression pattern.

Original languageEnglish
Pages (from-to)621-622
Number of pages2
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Volume105
Issue number7
Publication statusPublished - Oct 8 2001

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)

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