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

Kaleem, M., Zhao, A., Hamshere, Marian Lindsay ORCID: https://orcid.org/0000-0002-8990-0958 and Myers, A.J. 2007. Identification of a novel valosin-containing protein polymorphism in late-onset Alzheimer's disease. Neurodegenerative Diseases 4 (5) , pp. 376-381. 10.1159/000105158

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Abstract

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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	Karger
ISSN:	1660-2862
Last Modified:	31 Oct 2022 09:57
URI:	https://orca.cardiff.ac.uk/id/eprint/83033

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