Amyloid pathway-based candidate gene analysis of [ 11 C]PiB-PET in the Alzheimer's Disease Neuroimaging Initiative (ADNI) cohort

Shanker Swaminathan, Li Shen, Shannon L. Risacher, Karmen K. Yoder, John D. West, Sungeun Kim, Kwangsik Nho, Tatiana Foroud, Mark Inlow, Steven G. Potkin, Matthew J. Huentelman, David W. Craig, William J. Jagust, Robert A. Koeppe, Chester A. Mathis, Clifford R. Jack, Michael W. Weiner, Andrew J. Saykin

Research output: Contribution to journalArticlepeer-review

32 Scopus citations


Amyloid imaging with [ 11 C]Pittsburgh Compound-B (PiB) provides in vivo data on plaque deposition in those with, or at risk for, Alzheimer's disease (AD). We performed a gene-based association analysis of 15 quality-controlled amyloid-pathway associated candidate genes in 103 Alzheimer's Disease Neuroimaging Initiative participants. The mean normalized PiB uptake value across four brain regions known to have amyloid deposition in AD was used as a quantitative phenotype. The minor allele of an intronic SNP within DHCR24 was identified and associated with a lower average PiB uptake. Further investigation at whole-brain voxel-wise level indicated that non-carriers of the minor allele had higher PiB uptake in frontal regions compared to carriers. DHCR24 has been previously shown to confer resistance against beta-amyloid and oxidative stress-induced apoptosis, thus our findings support a neuroprotective role. Pathway-based genetic analysis of targeted molecular imaging phenotypes appears promising to help elucidate disease pathophysiology and identify potential therapeutic targets.

Original languageEnglish (US)
Pages (from-to)1-15
Number of pages15
JournalBrain Imaging and Behavior
Issue number1
StatePublished - Mar 2012


  • ADNI
  • Alzheimer's disease
  • Endophenotype
  • Pathway-based gene analysis
  • PiB-PET
  • Voxel-based analysis

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Neurology
  • Cognitive Neuroscience
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Psychiatry and Mental health
  • Behavioral Neuroscience


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