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The accumulation of brain amyloid  β  (A β ) 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 A β  deposition and an  a priori  evidence based set of 1610 genetic markers, genotyped from 505 unrelated individuals (258 A β + and 247 A β −) 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 A β  and their potential implication in AD pathophysiology, our findings are consistent with results obtained in previous GWAS efforts.

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