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Validation of a priori candidate Alzheimer’s disease SNPs with brain amyloid-beta deposition

Vacher, M., Porter, T., Villemagne, V.L., Milicic, L., Peretti, M., Fowler, C., Martins, R., Rainey-Smith, S., Ames, D., Masters, C.L., Rowe, C.C., Doecke, J.D. and Laws, S.M. (2019) Validation of a priori candidate Alzheimer’s disease SNPs with brain amyloid-beta deposition. Scientific Reports, 9 (1). Art. 17069.

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The accumulation of brain amyloid β (Aβ) is one of the main pathological hallmarks of Alzheimer’s disease (AD). However, the role of brain amyloid deposition in the development of AD and the genetic variants associated with this process remain unclear. In this study, we sought to identify associations between Aβ deposition and an a priori evidence based set of 1610 genetic markers, genotyped from 505 unrelated individuals (258 Aβ+ and 247 Aβ−) enrolled in the Australian Imaging, Biomarker & Lifestyle (AIBL) study. We found statistically significant associations for 6 markers located within intronic regions of 6 genes, including AC103796.1-BDNF, PPP3R1, NGFR, KL, ABCA7 & CALHM1. Although functional studies are required to elucidate the role of these genes in the accumulation of Aβ and their potential implication in AD pathophysiology, our findings are consistent with results obtained in previous GWAS efforts.

Item Type: Journal Article
Publisher: Springer Nature
Copyright: © 2021 Springer Nature Limited
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