Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: a case-control study.
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.
Di Maria
Emilio
E
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
Gulli
Rossella
R
Begni
Silvia
S
De Luca
Alessandro
A
Bignotti
Stefano
S
Pasini
Augusto
A
Bellone
Emilia
E
Pizzuti
Antonio
A
Dallapiccola
Bruno
B
Novelli
Giuseppe
G
Ajmar
Franco
F
Gennarelli
Massimo
M
Mandich
Paola
P
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*
D020413:3' Untranslated Regions; C121001:NR2B NMDA receptor; D016194:Receptors, N-Methyl-D-Aspartate