KIBRA Genetic Polymorphism Influences Episodic Memory in Alzheimer's Disease, but Does Not Show Association with Disease in a Japanese Cohort
KIBRA Genetic Polymorphism Influences Episodic Memory in Alzheimer's Disease, but Does Not Show Association with Disease in a Japanese Cohort
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DOI：
10.1159/000320482
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发表时间：
2010-01-01
影响因子：
2.4
通讯作者：
Takeda, Masatoshi
中科院分区：
文献类型：
--
作者：
Hayashi, Noriyuki;Kazui, Hiroaki;Takeda, Masatoshi
背景/目标：据报道，KIBRA基因rs 17070145的单核苷酸多态性（SNP）与认知正常人群的情景记忆显著相关。这一观察结果将KIBRA的遗传学研究扩展到阿尔茨海默病（AD）。重要的是，KIBRA与AD的情景记忆之间的联系从未得到解决。在这项研究中，我们调查了KIBRA rs 17070145 SNP是否影响日本队列中的AD情景记忆和疾病。方法：收集346例AD患者和375例正常认知对照者的血液样本，并进行rs 17070145基因分型。采用Rivermead行为记忆测验（RBMT）对32例首次确诊的AD患者进行了情景记忆测试。结果如下：我们发现，KIBRA C等位基因携带者在RBMT总评分（p = 0.042，效应量= 0.84）和RBMT总筛查评分（p < 0.001，效应量= 1.42）上的得分显著低于KIBRA非C携带者。在我们的日本队列中，KIBRA基因未显示与AD相关。结论：我们的研究结果表明，KIBRA基因和AD的情景记忆障碍之间存在很强的相关性，但在我们的日本队列中对AD没有影响。我们认为KIBRA可能具有类似于认知储备的作用。版权所有（C）2010 S. Karger AG，巴塞尔
Background/Aims: A single-nucleotide polymorphism (SNP) in the KIBRA gene, rs17070145, was reported to be significantly associated with episodic memory in cognitively normal cohorts. This observation has expanded genetic studies on KIBRA to Alzheimer's disease (AD). Importantly, the association between KIBRA and episodic memory in AD has never been addressed. In this study, we investigated whether the KIBRA rs17070145 SNP influences AD episodic memory and the disease in a Japanese cohort. Methods: Blood samples from 346 AD patients and 375 normal cognitive controls were collected and genotyped for rs17070145. Episodic memory was measured in 32 AD patients, diagnosed for the first time, by use of the Rivermead Behavioral Memory Test (RBMT). Results: We found that KIBRA C allele carriers scored significantly lower than KIBRA non-C carriers on both RBMT total profile score (p = 0.042, effect size = 0.84) and RBMT total screening score (p < 0.001, effect size = 1.42). The KIBRA gene did not show association with AD in our Japanese cohort. Conclusion: Our results evidence a strong association between the KIBRA gene and episodic memory impairment in AD, but show no influence on AD in our Japanese cohort. We propose that KIBRA might have an effect similar to cognitive reserve. Copyright (C) 2010 S. Karger AG, Basel