Validation of a priori candidate Alzheimer’s disease SNPs with brain amyloid-beta deposition
Year: 2019
Type: article
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.
Source: Scientific Reports
Institutions: Commonwealth Scientific and Industrial Research Organisation, Australian e-Health Research Centre, CSIRO Health and Biosecurity, Edith Cowan University, Cooperative Research Centre for Mental Health, The University of Melbourne, Florey Institute of Neuroscience and Mental Health, Austin Hospital, Austin Health, National Ageing Research Institute, Curtin University
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $1,790
OpenAlex ID: W2990019911