RGD Reference Report - Association analysis of GRIN2B, encoding N-methyl-D-aspartate receptor 2B subunit, and Alzheimer's disease. - Rat Genome Database

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Association analysis of GRIN2B, encoding N-methyl-D-aspartate receptor 2B subunit, and Alzheimer's disease.

Authors: Seripa, Davide  Matera, Maria Giovanna  Franceschi, Marilisa  Bizzarro, Alessandra  Paris, Francesco  Cascavilla, Leandro  Rinaldi, Monica  Panza, Francesco  Solfrizzi, Vincenzo  Daniele, Antonio  Masullo, Carlo  Dallapiccola, Bruno  Pilotto, Alberto 
Citation: Seripa D, etal., Dement Geriatr Cogn Disord. 2008;25(3):287-92. doi: 10.1159/000118634. Epub 2008 Feb 26.
RGD ID: 13792714
Pubmed: PMID:18303265   (View Abstract at PubMed)
DOI: DOI:10.1159/000118634   (Journal Full-text)


BACKGROUND: The glutamatergic neurotransmitter systems play a crucial role in memory formation and information processing. Alterations in this system contribute to the manifestation of symptoms in Alzheimer's disease (AD). Glutamate transmits signals via the N-methyl-D-aspartate receptors (NMDARs).
AIMS: The potential involvement of polymorphisms in the GRIN2B gene, encoding subunit 2B of the NMDA receptor, in the risk for AD was evaluated.
METHODS: We investigated the 3 single-nucleotide polymorphisms (SNPs) rs1019385, rs1806201 and rs890, i.e. the G(-200)-->T transversion in the 5'UTR, the A(2664)-->G transition in exon 13 and the G(5072)-->T transition in the 3'UTR of the GRIN2B gene, in 222 Caucasian AD patients and 170 healthy Caucasian age-matched controls.
RESULTS: No differences were found in the overall distribution of the single-nucleotide polymorphism genotypes between AD patients and healthy controls, even when the analysis was adjusted for sex, age and APOE. As expected from genotype frequencies, no differences were found in the distribution of the estimated allele and haplotype frequencies between AD patients and healthy controls.
CONCLUSION: In this study no significant association between polymorphisms in the GRIN2B gene and AD was observed. Further investigations of polymorphisms in the gene encoding the NMDA receptor 2B subunit in AD patients with different genetic setting are needed to clarify their role in the pathogenesis of AD.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Alzheimer's disease no_associationIAGP 13792714DNA:SNPs:promoter more ...RGD 
Alzheimer's disease no_associationISOGRIN2B (Homo sapiens)13792714; 13792714DNA:SNPs:promoter more ...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