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. (C) 2004 Wiley-Liss, Inc.

Di Maria, E., Gulli, R., Begni, S., De Luca, A., Bignotti, S., Pasini, A., et al. (2004). Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: A case-control study. AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS, 128 B(1), 27-29 [10.1002/ajmg.b.30028].

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

PASINI, AUGUSTO;DALLA PICCOLA, BRUNO;NOVELLI, GIUSEPPE;
2004-01-01

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. (C) 2004 Wiley-Liss, Inc.
2004
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore MED/03 - GENETICA MEDICA
Settore MED/39 - NEUROPSICHIATRIA INFANTILE
English
Con Impact Factor ISI
glutamic acid; n methyl dextro aspartic acid receptor; article; controlled study; gene replication; genetic code; genetic susceptibility; genetic variability; human; major clinical study; neurotransmission; nucleotide sequence; pathophysiology; priority journal; schizophrenia; single nucleotide polymorphism; 3' Untranslated Regions; Adult; Case-Control Studies; Epidemiology, Molecular; Female; Gene Frequency; Genetic Predisposition to Disease; Haplotypes; Homozygote; Humans; Italy; Male; Polymorphism, Single Nucleotide; Receptors, N-Methyl-D-Aspartate; Schizophrenia
Di Maria, E., Gulli, R., Begni, S., De Luca, A., Bignotti, S., Pasini, A., et al. (2004). Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: A case-control study. AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS, 128 B(1), 27-29 [10.1002/ajmg.b.30028].
Di Maria, E; Gulli, R; Begni, S; De Luca, A; Bignotti, S; Pasini, A; Bellone, E; Pizzuti, A; DALLA PICCOLA, B; Novelli, G; Ajmar, F; Gennarelli, M; Mandich, P
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/31247
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