Matsushita S, Arai H, Matsui T, Yuzuriha T, Urakami K, Masaki T, Higuchi S
Division of Clinical Research, National Hospital Organization, Kurihama Alcoholism Center, Yokosuka, Kanagawa, Japan.
J Neural Transm (Vienna). 2005 May;112(5):703-11. doi: 10.1007/s00702-004-0210-3. Epub 2004 Sep 14.
Several lines of evidence have made brain-derived neurotrophic factor (BDNF) an important candidate gene conferring risk for Alzheimer's disease (AD). Recently, three studies reported an association between two single-nucleotide polymorphisms (SNP)--i.e., C270T and G196A--in the BDNF gene and AD. This attempt to confirm these associations in a larger AD sample included examination of the linkage disequilibrium of these two SNPs. Comparison of 487 Japanese AD subjects with 471 cognitively normal elderly controls showed higher frequencies of the G allele (60.5 vs. 55.5%, p = 0.028) and of both the GG and GA genotypes (85.8 vs. 79.8%, p = 0.025) of the G196A polymorphism in AD subjects than in controls and higher frequency of the T allele of the C270T polymorphism in AD subjects who were negative for apolipotrotein E4 (2.0 vs. 4.4%, p = 0.035) or positive for AD family history (2.8 vs. 7.1%, p = 0.046). These findings suggest that BDNF gene polymorphisms play some role in the development of AD.
多项证据表明，脑源性神经营养因子（BDNF）是阿尔茨海默病（AD）风险的一个重要候选基因。最近，三项研究报道了BDNF基因中的两个单核苷酸多态性（SNP），即C270T和G196A，与AD之间存在关联。在一个更大的AD样本中试图证实这些关联的研究包括对这两个SNP的连锁不平衡进行检测。对487名日本AD患者和471名认知正常的老年对照者进行比较，结果显示，AD患者中G196A多态性的G等位基因频率（60.5%对55.5%，p = 0.028）以及GG和GA基因型频率（85.8%对79.8%，p = 0.025）均高于对照组；在载脂蛋白E4阴性（2.0%对4.4%，p = 0.035）或有AD家族史阳性（2.8%对7.1%，p = 0.046）的AD患者中，C270T多态性的T等位基因频率更高。这些发现表明，BDNF基因多态性在AD的发生发展中发挥了一定作用。
