Identification of a novel valosin-containing protein polymorphism in late-onset Alzheimer's disease

M. Kaleem, A. Zhao, M. Hamshere, A. J. Myers

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


Background/Aims: Recently, mutations in the valosin-containing protein gene (VCP) were found to be causative for a rare form of dementia [Watts GDJ, et al.: Nat Genet 2004;36:377-381]. This gene lies within a region on the genome that has been linked to late onset Alzheimer's disease (LOAD) [Myers A, et al.: Am J Med Genet 2002;114:233-242]. In this study, we investigated whether variation within VCP could account for the LOAD linkage peak on chromosome 9. Methods: We sequenced 188 individuals from the set of sibling pairs we had used to obtain the linkage results for chromosome 9 to look for novel polymorphisms that could explain the linkage signal. Any variant that was found was then typed in 2 additional sets of neuropathologically confirmed samples to look for associations with Alzheimer's disease. Results: We found 2 variants when we sequenced VCP. One was a novel rare variant (R92H) and the other is already reported within the publicly available databases (rs10972300). Neither explained the chromosome 9 linkage signal for LOAD. Conclusions: We have found a novel rare variant within the VCP gene, but we did not find a variant that could explain the linkage signal for LOAD on chromosome 9.

Original languageEnglish (US)
Pages (from-to)376-381
Number of pages6
JournalNeurodegenerative Diseases
Issue number5
StatePublished - Jul 2007
Externally publishedYes


  • Alzheimer's disease
  • Genetic association
  • Neurodegeneration
  • Valosin-containing protein
  • Valosin-containing protein gene

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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