脑源性神经营养因子基因Val66Met多态性与阿尔茨海默病的相关性被引量：2

The correlation between Val66Met polymorphism in BDNF gene and Alzheimer's disease

导出

摘要目的探讨中国汉族人群中脑源性神经营养因子(BDNF)基因 Val66Met 单核苷酸多态性(SNP)与阿尔茨海默病(AD)的相互关系。方法采用等位基因特异性聚合酶链反应(A-SPCR)技术检测513例 AD 患者和575例健康老年人 BDNF 基因 Val66Met 位点 SNP 的分布,分析各基因型与发病年龄和疾病严重程度的关系。结果 AD 组和对照组基因型频率(22.0%和21.7%;x^2=0.41,P=0.82)、等位基因频率(45.9%和46.5%;x^2=0.08,P=0.77)差异均无统计学意义(P>0.05)。进一步将 AD 组按照发病年龄(<65岁和≥65岁)和性别分层,也未发现差异有统计学意义(P>0.05)。各基因型与发病年龄和疾病的严重程度不存在相关性。结论中国汉族人群中BDNF 基因 Val66Met 位点 SNP 与 AD 未发现关联关系。 Objective To evaluate the association of Va166Met single nucleotide polymorphism （SNP） in brain-derived neurotrophic factor （BDNF） gene with Alzheimer＇s disease （AD） in Chinese Han population. Methods Va166Met SNP in BDNF gene was detected by Allele-Specific polymerase chain reaction （A-S PCR） technique in 513 patients with AD and 575 health aged controls. Results No significant differences were demonstrated in Va166Met BDNF genotype or allele frequencies between AD patients and controls （x^2=0. 41, P=0. 82; x^2=0. 08, P=0. 77 respectively）. When AD and control groups were stratified by age/age at illness onset and sex, no significant differences were observed in age/age at onset subsets or in gender subsets （P 〉 0. 05）. Our data also showed no significant association between the genotypes and the severity of the disease. One-way ANOVA showed that BDNF genotype had no association to the age of onset for developing AID. Conclusions Our results indicate that Va166Met SNP in BDNF gene is not associated with AID.

作者何小明张振馨周涌涛张俊武唐牟尼武成斌洪震

机构地区中国医学科学院中国协和医科大学北京协和医院神经内科中国医学科学院中国协和医科大学北京协和医院基础医学研究所广州脑科医院精神科西安交通大学第一医院神经内科复旦大学附属华山医院神经内科

出处《中华老年医学杂志》 CAS CSCD 北大核心 2006年第2期85-88,共4页 Chinese Journal of Geriatrics

基金国家九五攻关项目(95-096-05-01) 美国中华医学基金会国际合作项目(99-699)

关键词阿尔茨海默病脑源性神经营养因子基因表达单核苷酸 Alzheimer disease Brain-derived neurotrophic factor Gene expression Single nucleotide

分类号 R749.1 [医药卫生—神经病学与精神病学]

引文网络
相关文献

参考文献16

1Campion D, Dumanchin C, Hannequin D, et al. Early-onset autosomal dominant Alzheimer disease:prevalence, genetic heterogeneity, and mutation spectrum. Am J Hum Genet, 1999, 65: 664-670.
2Huang Y, Weisgraber KH, Mucke L, et al.Apolipoprotein E: diversity of cellular origins,structural and biophysical properties, and effects in Alzheimer's disease. J Mol Neurosci, 2004, 23:189-204.
3Maezawa I, Jin LW, Woltjer RL, et al.Apolipoprotein E isoforms and apolipoprotein AI protect from amyloid precursor protein carboxy terminal fragment-associated cytotoxicity. J Neurochem, 2004, 91:1312-1321.
4Holsinger RM, Schnarr J, Henry P, et al.Quantification of BDNF mRNA in human parietal cortex by competitive reverse transcription-polymerase chain reaction., decreased levels in Alzheimer's disease.Brain Res Mol Brain Res, 2000, 76: 347-354.
5Hock C, Heese K, Hulette C, et al. Region-specific neurotrophin imbalances in Alzheimer disease:decreased levels of brain-derived neurotrophic factor and increased levels of nerve growth factor in hippocampus and cortical areas. Arch Neurol, 2000,57: 846-851.
6Egan MF, Kojima M, Callicott JH, et al. The BDNF va166met polymorphism affects activity-dependent secretion of BDNF and human memory and hippocampal function. Cell, 2003, 112: 257-269.
7Ventriglia M, Bocchio Chiavetto L, Benussi L, et al.Association between the BDNF 196 A/G polymorphism and sporadic Alzheimer's disease. Mol Psychiatry,2002, 7: 136-137.
8Lu B, Gottschalk W. Modulation of hippocampal synaptic transmission and plasticity by neurotrophins.Prog Brain Res, 2000, 128:231-241.
9Hariri AR, Goldberg TE, Mattay VS, et al. Brain-derived neurotrophic factor Va166Met polymorphism affects human memory-related hippocampal activity and predicts memory performance. J Neurosci, 2003, 23:6690-6694.
10Matsushita S, Arai H, Matsui T, et al. Brain-derived neurotrophic factor gene polymorphisms and Alzheimer's disease. J Neural Transm, 2005, 112:703-771.