RGD Reference Report - N-methyl-D-aspartate receptor NR2B subunit gene GRIN2B in schizophrenia and bipolar disorder: Polymorphisms and mRNA levels. - Rat Genome Database

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N-methyl-D-aspartate receptor NR2B subunit gene GRIN2B in schizophrenia and bipolar disorder: Polymorphisms and mRNA levels.

Authors: Martucci, L  Wong, AH  De Luca, V  Likhodi, O  Wong, GW  King, N  Kennedy, JL 
Citation: Martucci L, etal., Schizophr Res. 2006 Jun;84(2-3):214-21. Epub 2006 Mar 20.
RGD ID: 1642201
Pubmed: PMID:16549338   (View Abstract at PubMed)
DOI: DOI:10.1016/j.schres.2006.02.001   (Journal Full-text)

The NR2B protein is a critical structural and functional subunit of the NMDA glutamate receptor. The glutamate neurotransmitter system has been implicated in psychosis and schizophrenia, and so we looked for genetic association and measured gene expression in human DNA and brain samples, respectively, of the GRIN2B gene that codes for the NR2B protein. We tested three genetic polymorphisms: G-200T (5'UTR), A5806C and T5988C (both 3'UTR) in 180 matched schizophrenia case-control pairs, 86 schizophrenia nuclear family trios, and 318 bipolar disorder trios (of which 158 probands had psychotic symptoms). We measured brain GRIN2B mRNA levels in schizophrenia, bipolar disorder and unaffected controls (n = 35 each). We detected genetic association between the G-200T marker and schizophrenia (p = 0.002), between T5988C and bipolar disorder (p = 0.02), and between A5806C and bipolar disorder with psychotic symptoms (p = 0.0038). The T-C-C haplotype was transmitted more frequently with bipolar disorder, but less often with schizophrenia, while the G-C-T haplotype was transmitted more often in schizophrenia. Significant differences were found in overall haplotype frequencies between schizophrenia cases and controls (p = 0.005). GRIN2B expression levels in schizophrenia, bipolar disorder and controls were not significantly different. The genetic findings suggest a role for GRIN2B in schizophrenia and bipolar disorder.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
bipolar disorder  IAGP 1642201DNA:polymorphism:multipleRGD 
bipolar disorder  ISOGRIN2B (Homo sapiens)1642201; 1642201 RGD 
schizophrenia  IAGP 1642201DNA:polymorphism:multipleRGD 
schizophrenia  ISOGRIN2B (Homo sapiens)1642201; 1642201 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Grin2b  (glutamate ionotropic receptor NMDA type subunit 2B)

Genes (Mus musculus)
Grin2b  (glutamate receptor, ionotropic, NMDA2B (epsilon 2))

Genes (Homo sapiens)
GRIN2B  (glutamate ionotropic receptor NMDA type subunit 2B)


Additional Information