%0 Journal Article %J Dement Geriatr Cogn Disord %D 2009 %T Genetic variation in N-methyl-D-aspartate receptor subunit NR3A but not NR3B influences susceptibility to Alzheimer's disease. %A Liu, Hsin-Ping %A Lin, Wei-Yong %A Liu, Shu-Hsiang %A Wang, Wen-Fu %A Tsai, Chon-Haw %A Wu, Bor-Tsang %A Wang, Chien-Kuo %A Tsai, Fuu-Jen %K Aged %K Alleles %K Alzheimer Disease %K DNA %K Female %K Genetic Markers %K Genetic Predisposition to Disease %K Genotype %K Humans %K Male %K Middle Aged %K Odds Ratio %K Polymorphism, Single Nucleotide %K Receptors, N-Methyl-D-Aspartate %K Risk Factors %K Taiwan %X

BACKGROUND: The administration of memantine, an N-methyl-D-aspartate (NMDA) receptor antagonist, has clinically improved the cognitive function of patients with Alzheimer's disease (AD), indicating that a disturbance in glutamatergic transmission might be involved in a predisposition to developing the disease.

AIM: The potential association of polymorphisms in NMDA receptor subunits NR3A and NR3B, encoded by the GRIN3A and GRIN3B genes, with AD was investigated.

METHODS: We performed a case-control study. Two single nucleotide polymorphisms, 3104 G/A (rs10989563) and 3723 G/A (rs3739722), in the GRIN3A gene and 2 GRIN3B gene polymorphisms, 1210 C/T (rs4807399) and 1730 C/T (rs2240158), were studied.

RESULTS: Upon genotyping of the exonic polymorphism in the GRIN3A gene, the G allele was present at a higher rate than the A allele at position 3723 in AD patients compared with normal groups (p < 0.05). Three haplotypes (designated Ht1-3) were identified from these 2 polymorphisms (3104 G/A and 3723 G/A), and the distribution of Ht2 (AG) differed between AD patients and controls (p < 0.05). Additionally, from the 2 GRIN3B gene variants 1210 C/T and 1730 C/T analyzed, no strong association with AD was observed.

CONCLUSION: These observations suggest that the genetic variation of the NR3A, but not NR3B, subunit of the NMDA receptor may be a risk factor for AD pathogenesis among the Taiwanese population.

%B Dement Geriatr Cogn Disord %V 28 %P 521-7 %G eng %N 6 %1

http://www.ncbi.nlm.nih.gov/pubmed/20016182?dopt=Abstract

%R 10.1159/000254757