کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
4347903 | 1615176 | 2009 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Association between NR2B subunit gene (GRIN2B) promoter polymorphisms and sporadic Alzheimer's disease in the North Chinese population
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب (عمومی)
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چکیده انگلیسی
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 â200T/G (rs1019385), â421C/A (rs3764028), â1447T/C (ENS10557853), and â1497G/A (rs12368476). Genetic analysis confirmed that there were significant differences in genotype (PÂ =Â 0.029) and allele (PÂ =Â 0.010) frequencies for â421C/A between SAD and control. In the subjects without APOE É4 allele, these difference remained significant (genotype PÂ =Â 0.012, allele PÂ =Â 0.004). The â421CC genotype was about 1.5 fold increasing risk compared with CAÂ +Â AA genotypes (ORÂ =Â 1.517, 95% CI 1.077-2.137, PÂ =Â 0.017). Luciferase reporter assay showed a 34.69-39.79% decrease in transcriptional activity for â421C allele of GRIN2B promoter compared with â421A in SH-SY5Y and HeLa cell lines. Our study suggests that the â421C allele may induce lower GRIN2B transcriptional activity and NR2B protein expression, thus it is associated with AD.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuroscience Letters - Volume 450, Issue 3, 6 February 2009, Pages 356-360
Journal: Neuroscience Letters - Volume 450, Issue 3, 6 February 2009, Pages 356-360
نویسندگان
Hanqiu Jiang, Jianping Jia,