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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 | 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: | https://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 |
Journal: | Scientific Reports | PubMed URL: | 31745181 | Type: | Journal Article |
| Appears in Collections: | Journal articles |
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