机构：[a]Department of Neurology, Xuan Wu Hospital of the Capital Medical University, 45 Changchun Street, Beijing 100053, China神经内科首都医科大学宣武医院[b]Key Neurodegenerative Laboratory of Ministry of Education of the People’s Republic of China, Beijing 100053, China
N-methyl-D-aspartate (NMDA) receptor plays a Crucial role in learning, memory and information processing of human brain. Its dysfunction is related to the pathogenesis of Alzheimer's disease (AD). We detected four polymorphisms of the promoter regions of the human NMDA receptor 2B (NR2B) subunit gene (GRIN2B) in 362 AD patients and 334 healthy in North Han Chinese populations, these were -200T/G (rs1019385). -421C/A (rs3764028), -1447T/C (ENS10557853), and -1497G/A (rs12368476). Genetic analysis confirmed that there were significant differences in genotype (P=0.029) and allele (P=0.010) frequencies for -421C/A between SAD and control. In the Subjects without APOE epsilon 4 allele, these difference remained significant (genotype P=0.012, allele P=0.004). The -421CC genotype was about 1.5 fold increasing risk compared with CA+AA genotypes (OR= 1.517, 95% CI 1.077-2.137,P=0.017). Luciferase reporter assay showed a 34.69-39.79% decrease in transcriptional activity for -421C allele of GRlN2B promoter compared with -421 A in SH-SY5Y and HeLa cell lines. Our study suggests that the -421C allele may induce lower CRIN2B transcriptional activity and NR2B protein expression, thus it is associated with AD. (C) 2008 Elsevier Ireland Ltd. All rights reserved.
基金：
National Key Technology R&D Program in the Eleventh Five-year Plan Period (2006BAI02B01), the National Basic Research 973 Program (2006CB500700),
Beijing Natural Science Foundation (7071004), and Funding Project for Academic Human Resources Development in Institutions of Higher Learning Under the Jurisdiction of Beijing Municipality.
第一作者机构：[a]Department of Neurology, Xuan Wu Hospital of the Capital Medical University, 45 Changchun Street, Beijing 100053, China[b]Key Neurodegenerative Laboratory of Ministry of Education of the People’s Republic of China, Beijing 100053, China
通讯作者：
通讯机构：[a]Department of Neurology, Xuan Wu Hospital of the Capital Medical University, 45 Changchun Street, Beijing 100053, China
推荐引用方式(GB/T 7714)：
Hanqiu Jiang,Jianping Jia.Association between NR2B subunit gene (GRIN2B) promoter polymorphisms and sporadic Alzheimer's disease in the North Chinese population[J].NEUROSCIENCE LETTERS.2009,450(3):356-360.doi:10.1016/j.neulet.2008.10.075.
APA：
Hanqiu Jiang&Jianping Jia.(2009).Association between NR2B subunit gene (GRIN2B) promoter polymorphisms and sporadic Alzheimer's disease in the North Chinese population.NEUROSCIENCE LETTERS,450,(3)
MLA：
Hanqiu Jiang,et al."Association between NR2B subunit gene (GRIN2B) promoter polymorphisms and sporadic Alzheimer's disease in the North Chinese population".NEUROSCIENCE LETTERS 450..3(2009):356-360
