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

Davide Seripa, Maria Giovanna Matera, Marilisa Franceschi, Alessandra Bizzarro, Francesco Paris, Leandro Cascavilla, Monica Rinaldi, Francesco Panza, Vincenzo Solfrizzi, Antonio Daniele, Carlo Masullo, Bruno Dallapiccola, Alberto Pilotto

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)287-292
Number of pages6
JournalDementia and Geriatric Cognitive Disorders
Issue number3
Publication statusPublished - Mar 2008


  • Alzheimer's disease
  • Glutamate receptor, ionotropic, N-methyl-D-aspartate 2B
  • N-methyl-D-aspartate
  • Single-nucleotide polymorphism

ASJC Scopus subject areas

  • Neuropsychology and Physiological Psychology
  • Geriatrics and Gerontology


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