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Genetic Association Between KIBRA Polymorphism and Alzheimer’s Disease with in a Japanese Population

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An Erratum to this article was published on 21 April 2015

Abstract

KIBRA plays an important role in synaptic plasticity in human hippocampus related to cognitive function. Functional studies suggest that KIBRA is a potential candidate gene for memory and Alzheimer’s disease (AD) risk. A single nucleotide polymorphism, Rs17070145 C allele affects the onset of AD in an age-dependent manner comparing with T/T genotypes and is also associated with risk of substance abuse and relapse. The aim of this case–control study was to investigate whether the rs17070145 polymorphism affected the onset of AD in an age-dependent manner in a Japanese population. We analysed KIBRA and APOE genotypes in 237 young AD cases, 154 age-matched control cases and 160 old AD cases. The analyses were performed by stratifying alcohol consumption and the APOE status. We used single photon emission computed tomography (SPECT) to analyse patients with AD with the rs17070145 polymorphism. The genotypic and allelic frequencies of the young AD group differed significantly from those of control and old AD groups. There was a significant association among high alcohol consumption (HAC-AD group) and the genotypic and allelic frequencies of the rs17070145 polymorphism. Logistic regression analyses demonstrate synergism between the APOE genotype and the rs17070145 C allele to increase the risk of AD in the young group; this was confirmed in the HAC-AD group. The SPECT study revealed hyperperfusion in the C allele carrier group was detected in the right inferior frontal gyrus compared with the T/T group. KIBRA rs17070145 affects specific phenotypes of patients with AD.

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Acknowledgments

This study was partially supported by the High Technology Research Center Grant from the Ministry of Education, Culture, Sports, Science and Technology of Japan and by the Sportology Center, Juntendo University Graduate School of Medicine. We are grateful for the technical assistance of K. Yamamoto.

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None.

Ethical standard

The Ethics Committees of the Juntendo University School of Medicine and the Jikei University School of Medicine approved the study protocols.

Informed consent

The purpose and significance of this study were explained in detail in writing, including verbal supplementation as required, to each patient and their spouse or first-degree relatives. All subjects provided their written informed consent. If the ability of the patients to provide consent was compromised, their spouse or first-degree relative provided consent. Patients without accompanying spouses or relatives were not included in this study.

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Correspondence to Nobuto Shibata.

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Kawai, E., Shibata, N., Nagata, T. et al. Genetic Association Between KIBRA Polymorphism and Alzheimer’s Disease with in a Japanese Population. Neuromol Med 17, 170–177 (2015). https://doi.org/10.1007/s12017-015-8348-8

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  • DOI: https://doi.org/10.1007/s12017-015-8348-8

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