The ongoing search for genetic modulators of brain Aβ deposition in humans has been bolstered by advances in imaging methods for noninvasive detection of fibrillar Aβ in vivo. While existing genetic studies of brain Aβ have focused on candidate genes due to moderate sample sizes, the enhanced stability of recently-developed 18F-labeled positron emission tomography (PET) imaging Aβ tracers such as florbetapir (also known as AV-45 or Amyvid) allows for more widespread evaluation to facilitate the acquisition of larger cohorts for analysis.9 Importantly, florbetapir PET data has demonstrated strong relationships with pathologically-verified assessments of fibrillar Aβ burden,10, 11 and thus represents a novel and robust quantitative phenotype that can be assessed in samples with heightened power for discovery of genes influencing Aβ neuropathology.
