TY - JOUR
T1 - Association analysis of GRIN2B, encoding N-methyl-D-aspartate receptor 2B subunit, and Alzheimer's disease
AU - Seripa, Davide
AU - Matera, Maria Giovanna
AU - Franceschi, Marilisa
AU - Bizzarro, Alessandra
AU - Paris, Francesco
AU - Cascavilla, Leandro
AU - Rinaldi, Monica
AU - Panza, Francesco
AU - Solfrizzi, Vincenzo
AU - Daniele, Antonio
AU - Masullo, Carlo
AU - Dallapiccola, Bruno
AU - Pilotto, Alberto
PY - 2008
Y1 - 2008
N2 - 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 A2664→G transition in exon 13 and the G5072→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. Copyright © 2008 S. Karger AG.
AB - 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 A2664→G transition in exon 13 and the G5072→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. Copyright © 2008 S. Karger AG.
KW - Aged
KW - Aged, 80 and over
KW - Alzheimer Disease
KW - Alzheimer's disease
KW - Brain
KW - Case-Control Studies
KW - Cross-Sectional Studies
KW - DNA Primers
KW - Female
KW - Glutamate receptor, ionotropic, N-methyl-D-aspartate 2B
KW - Humans
KW - Male
KW - Middle Aged
KW - N-methyl-D-aspartate
KW - Neuropsychological Tests
KW - Receptors, N-Methyl-D-Aspartate
KW - Severity of Illness Index
KW - Single-nucleotide polymorphism
KW - Aged
KW - Aged, 80 and over
KW - Alzheimer Disease
KW - Alzheimer's disease
KW - Brain
KW - Case-Control Studies
KW - Cross-Sectional Studies
KW - DNA Primers
KW - Female
KW - Glutamate receptor, ionotropic, N-methyl-D-aspartate 2B
KW - Humans
KW - Male
KW - Middle Aged
KW - N-methyl-D-aspartate
KW - Neuropsychological Tests
KW - Receptors, N-Methyl-D-Aspartate
KW - Severity of Illness Index
KW - Single-nucleotide polymorphism
UR - http://hdl.handle.net/10807/140015
U2 - 10.1159/000118634
DO - 10.1159/000118634
M3 - Article
SN - 1420-8008
VL - 25
SP - 287
EP - 292
JO - Dementia and Geriatric Cognitive Disorders
JF - Dementia and Geriatric Cognitive Disorders
ER -