摘要
目的 N-甲基-D-天冬氨酸(N-methyl-D-aspartate,NMDA)受体功能异常可能与阿尔茨海默病(Alzheimer’sdisease,AD)的发病有关。NMDA的NR2B亚基由于在中枢神经具有特定的分布规律,并被发现在AD的脑组织中选择性表达下降,因而备受关注。本研究旨在探讨NMDA受体NR2B亚基基因(GRIN2B)C2664T多态性与上海地区汉族人群阿尔茨海默病的关系。方法在63例AD患者和68例对照者中,采用基因测序法对GRIN2B基因第13个外显子区的C2664T单核苷酸多态性(rs180620)进行检测,在等位基因和基因型水平上进行比较。结果 AD组中有15名患者基因型为C/C(23.6%),35名基因型为C/T(55.6%),13名为T/T(20.6%)。在健康对照组中,C/C、C/T和T/T基因型的人数分别为15(22.1%)、39(57.4%)和14(20.6%)。在基因型和等位基因水平,NR2B亚基基因多态性均未显示出与AD的相关性。得到的数据经性别和发病年龄分层比较后,仍未显示出相关性。结论 GRIN2B基因C2664T多态性与上海地区汉族人群罹患AD无相关性。
Objective N-methyl-D-aspartate（NMDA）receptor has been indicated to be involved in the pathogenesis of Alzheimer’s disease（AD）.The NMDA receptor subunit 2b（NR2B）has attracted more attention due to its characteristic distribution and selective reduction in AD brain.The present study aimed to explore the association between NMDA gene polymorphism and AD.Methods A total of 63 AD patients and 68 normal controls in Shanghai city were employed in this study.Genotype of C2664T variant（rs1806201）in the exon13 of GRIN2B gene was determined by gene sequencing. Results Among AD patients,15（23.6%）subjects were identified as C/C genotype,and 35（55.6%）were identified as C/T genotype.The left 13（20.6%）subjects were identified as T/T genotype.In normal controls,15（22.1%）subjects were identified as C/C genotype,39（57.4%）as C/T genotype and 14（20.6%）as T/T genotype.The distribution frequency of neither GRIN2B C2664T genotype（P=0.895）nor allele（P=0.790）was significantly different between AD patients and normal controls,even when the subjects were stratified by gender and age of disease onset in AD patients.Conclusion The results suggest that there is no relation between GRIN2B C2664T polymorphism and AD in Chinese Han population of Shanghai City.
基金
supported by the Key Project of Shanghai Science and Technology Committee(No.08411951100,10ZR1425800)
the National Major Special Project of Science and Technology of Ministry of Science and Technology,China(No.2008ZX09312-014,2008ZX09312-003)
