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BACE1 Gene Promoter Single-Nucleotide Polymorphisms in Alzheimer’s Disease

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Abstract

Alzheimer’s disease (AD) is the most neurodegenerative disorder leading to dementia. Neuritic plaque formation in brains is a hallmark of AD pathogenesis. Amyloid β protein (Aβ) is the central component of neuritic plaques. Processing β-amyloid precursor protein (APP) at the β-secretase site by the beta-site APP cleaving enzyme 1 (BACE1) is essential for generation of Aβ. Elevation of BACE1 activity and expression has been reported in AD brains. However, no mutation in the BACE1 coding sequence has been identified in AD cases. Human BACE1 expression is tightly regulated at the transcription and translation level. To determine whether there is any single-nucleotide polymorphisms in the BACE1 gene promoter region affecting BACE1 expression in AD pathogenesis, in this study, we screened 2.6 kb of the human BACE1 gene promoter region from late-onset AD patients and found that there was no significant association between single-nucleotide polymorphisms and AD cases.

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Acknowledgements

We thank The National Cell Repository for Alzheimer’s Disease (NCRAD) at Indiana University School of Medicine for providing us the genomic samples of AD and controls (U24AG021886). This work was supported by Canadian Institutes of Health Research (CIHR), Jack Brown and Family Alzheimer’s Research Foundation, and Michael Smith Foundation for Health Research (W.S.). W.S. is the holder of the Canada Research Chair in Alzheimer’s Disease. W.Z. was the recipient of the Arthur & June Willms Fellowships, and Y. L. was supported by the Chinese Scholarship Council award.

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Correspondence to Weihong Song.

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Weihui Zhou and Fang Cai contributed equally to this work

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Zhou, W., Cai, F., Li, Y. et al. BACE1 Gene Promoter Single-Nucleotide Polymorphisms in Alzheimer’s Disease. J Mol Neurosci 42, 127–133 (2010). https://doi.org/10.1007/s12031-010-9381-6

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