Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/22183
Title: Validation of a priori candidate Alzheimer's disease SNPs with brain amyloid-beta deposition.
Austin Authors: Vacher, Michael;Porter, Tenielle;Villemagne, Victor L ;Milicic, Lidija;Peretti, Madeline;Fowler, Christopher;Martins, Ralph;Rainey-Smith, Stephanie;Ames, David;Masters, Colin L ;Rowe, Christopher C ;Doecke, James D;Laws, Simon M
Affiliation: CSIRO Health and Biosecurity, Australian e-Health Research Centre, Floreat, 6014, Western Australia, Australia
Collaborative Genomics Group, Centre of Excellence for Alzheimer's Disease Research and Care, School of Medical and Health Sciences, Edith Cowan University, Joondalup, 6027, Western Australia, Australia
Cooperative Research Centre for Mental Health, Carlton South, 3053, Victoria, Australia
Department of Nuclear Medicine and Centre for PET, Austin Health, Heidelberg, 3084, Victoria, Australia
The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, 3052, Victoria, Australia
Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Collaborative Genomics Group, Centre of Excellence for Alzheimer's Disease Research and Care, School of Medical and Health Sciences, Edith Cowan University, Joondalup, 6027, Western Australia, Australia
The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, 3052, Victoria, Australia
Centre of Excellence for Alzheimer's Disease Research and Care, School of Medical and Health Sciences, Edith Cowan University, Joondalup, 6027, Western Australia, Australia
National Ageing Research Institute, Parkville, 3052, Victoria, Australia
Department of Nuclear Medicine and Centre for PET, Austin Health, Heidelberg, Victoria, Australia
CSIRO Health and Biosecurity, Australian e-Health Research Centre, Herston, 4029, Queensland, Australia
School of Pharmacy and Biomedical Sciences, Faculty of Health Sciences, Curtin Health Innovation Research Institute, Curtin University, Bentley, 6102, Western Australia, Australia
Issue Date: 19-Nov-2019
metadata.dc.date: 2019-11-19
Publication information: Scientific Reports 2019; 9(1): 17069
Abstract: 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.
URI: http://ahro.austin.org.au/austinjspui/handle/1/22183
DOI: 10.1038/s41598-019-53604-5
ORCID: 0000-0002-7887-6622
0000-0003-0375-8370
0000-0002-5832-9875
0000-0002-4355-7082
0000-0003-3910-2453
0000-0003-2863-0293
PubMed URL: 31745181
Type: Journal Article
Appears in Collections:Journal articles

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