Association analysis for the genetic variants of the NMDA receptor subunit 2b and Alzheimer's disease.

N-methyl-D-aspartate (NMDA) receptor dysfunction has been implicated in the pathogenesis of Alzheimer's disease (AD). The NMDA receptor is composed of several subunits, of which the receptor 2b subunit (NR2b) is of particular significance for AD. Abundant in the hippocampus of normal subjects, reductions in NR2b have been demonstrated in the hippocampus and entorhinal cortex of AD patients. In this study, we tested the hypothesis that the allelic variant (C2664T) of the NR2b confers susceptibility to AD using a sample population of 132 AD patients and 114 normal controls. The distribution of the NR2b genotypes (p = 0.600) and alleles (p = 0.652) did not differ significantly between AD patients and controls, however, suggesting that it is unlikely that the NR2b C2664T polymorphism plays a substantial role in conferring susceptibility to AD. We propose that other genetic variations of the NMDA subunits, relating either to AD or to the therapeutic response for NMDA partial agonists, may need further investigation. Copyright 2002 S. Karger AG, Basel