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


OBJECTIVE
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.


CONCLUSIONS
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.
Seripa
Davide
D
Geriatric Unit & Gerontology-Geriatrics Research Laboratory, Department of Medical Sciences, San Giovanni Rotondo, Italy. dseripa@operapadrepio.it
Matera
Maria Giovanna
MG
Franceschi
Marilisa
M
Bizzarro
Alessandra
A
Paris
Francesco
F
Cascavilla
Leandro
L
Rinaldi
Monica
M
Panza
Francesco
F
Solfrizzi
Vincenzo
V
Daniele
Antonio
A
Masullo
Carlo
C
Dallapiccola
Bruno
B
Pilotto
Alberto
A
D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000473:pathology; D016022:Case-Control Studies; D003430:Cross-Sectional Studies; D017931:DNA Primers / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests; D016194:Receptors, N-Methyl-D-Aspartate / Q000235:genetics*; D012720:Severity of Illness Index
D017931:DNA Primers; C121001:NR2B NMDA receptor; D016194:Receptors, N-Methyl-D-Aspartate