Genomic copy number analysis in Alzheimer's disease and mild cognitive impairment: An ADNI study

Andrew J. Saykin, Shanker Swaminathan, Sungeun Kim, Li Shen, Shannon L. Risacher, Tatiana Foroud, Nathan Pankratz, Steven G. Potkin, Matthew J. Huentelman, David W. Craig, Michael W. Weiner

Research output: Contribution to journalArticle

39 Scopus citations


Copy number variants (CNVs) are DNA sequence alterations, resulting in gains (duplications) and losses (deletions) of genomic segments. They often overlap genes and may play important roles in disease. Only one published study has examined CNVs in late-onset Alzheimer's disease (AD), and none have examined mild cognitive impairment (MCI). CNV calls were generated in 288 AD, 183 MCI, and 184 healthy control (HC) non-Hispanic Caucasian Alzheimer's Disease Neuroimaging Initiative participants. After quality control, 222 AD, 136 MCI, and 143 HC participants were entered into case/control association analyses, including candidate gene and whole genome approaches. Although no excess CNV burden was observed in cases (AD and/or MCI) relative to controls (HC), gene-based analyses revealed CNVs overlapping the candidate gene CHRFAM7A, as well as CSMD1, SLC35F2, HNRNPCL1, NRXN1, and ERBB4 regions, only in cases. Replication in larger samples is important, after which regions detected here may be promising targets for resequencing.

Original languageEnglish (US)
Article number729478
JournalInternational Journal of Alzheimer's Disease
StatePublished - Sep 16 2011


ASJC Scopus subject areas

  • Aging
  • Neurology
  • Clinical Neurology
  • Cognitive Neuroscience
  • Cellular and Molecular Neuroscience
  • Behavioral Neuroscience

Cite this

Saykin, A. J., Swaminathan, S., Kim, S., Shen, L., Risacher, S. L., Foroud, T., Pankratz, N., Potkin, S. G., Huentelman, M. J., Craig, D. W., & Weiner, M. W. (2011). Genomic copy number analysis in Alzheimer's disease and mild cognitive impairment: An ADNI study. International Journal of Alzheimer's Disease, [729478].