title: Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: a case-control study.
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.
authors.affiliation: Department 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
authors.forename: Emilio
authors.initials: E
authors.lastname: Di Maria
authors.forename: Rossella
authors.initials: R
authors.lastname: Gulli
authors.forename: Silvia
authors.initials: S
authors.lastname: Begni
authors.forename: Alessandro
authors.initials: A
authors.lastname: De Luca
authors.forename: Stefano
authors.initials: S
authors.lastname: Bignotti
authors.forename: Augusto
authors.initials: A
authors.lastname: Pasini
authors.forename: Emilia
authors.initials: E
authors.lastname: Bellone
authors.forename: Antonio
authors.initials: A
authors.lastname: Pizzuti
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Novelli
authors.forename: Franco
authors.initials: F
authors.lastname: Ajmar
authors.forename: Massimo
authors.initials: M
authors.lastname: Gennarelli
authors.forename: Paola
authors.initials: P
authors.lastname: Mandich
mesh_terms: D020413:3' Untranslated Regions; D000328:Adult; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D017720:Molecular Epidemiology; D020641:Polymorphism, Single Nucleotide; D016194:Receptors, N-Methyl-D-Aspartate / Q000235:genetics*; D012559:Schizophrenia / Q000235:genetics*
chemical_list: D020413:3' Untranslated Regions; C121001:NR2B NMDA receptor; D016194:Receptors, N-Methyl-D-Aspartate