Journal article

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

Michael Vacher, Tenielle Porter, Victor L Villemagne, Lidija Milicic, Madeline Peretti, Christopher Fowler, Ralph Martins, Stephanie Rainey-Smith, David Ames, Colin L Masters, Christopher C Rowe, James D Doecke, Simon M Laws

Scientific Reports | NATURE PUBLISHING GROUP | Published : 2019


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 func..

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Awarded by Cooperative Research Centre (CRC) for Mental Health - CRC Program an Australian Government Initiative

Funding Acknowledgements

Funding for the AIBL study was provided in part by the study partners [Commonwealth Scientific Industrial and research Organisation (CSIRO), Edith Cowan University (ECU), Mental Health Research institute (MHRI), National Ageing Research Institute (NARI), Austin Health, CogState Ltd.]. The AIBL study has also received support from the National Health and Medical Research Council (NHMRC) and the Dementia Collaborative Research Centres program (DCRC2), as well as funding from the Science and Industry Endowment Fund (SIEF) and the Cooperative Research Centre (CRC) for Mental Health - funded through the CRC Program (Grant ID: 20100104), an Australian Government Initiative. Data used in preparation of this article was obtained from the AIBL68 ( We thank all the investigators within the AIBL who contributed to the design and implementation of the resource and/or provided data but did not participate in the analysis or writing of this report. A complete listing of AIBL investigators can be found at