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

GENNARELLI, Massimo;
2004-01-01
2004
Altre Amm. Pubb. Italiane
LS2_6 Molecular genetics, reverse genetics and RNAi
2-s2.0-3042847443
WOS:000222423700007
Inglese
128B(1)
27
29
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.
Altra università italiana
13
info:eu-repo/semantics/article
262
DI MARIA, E; Gulli, R; Begni, S; DE LUCA, A; Bignotti, S; Pasini, A; Bellone, E; Pizzuti, A; Dallapiccola, B; Novelli, G; Ajmar, F; Gennarelli, Massim...espandi
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1.1 Articolo in rivista
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11379/21951
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