{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,30]],"date-time":"2025-11-30T13:31:55Z","timestamp":1764509515393,"version":"3.40.4"},"reference-count":4,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2007,1,1]],"date-time":"2007-01-01T00:00:00Z","timestamp":1167609600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2007,1,1]],"date-time":"2007-01-01T00:00:00Z","timestamp":1167609600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurodegener Dis"],"published-print":{"date-parts":[[2007]]},"abstract":"<jats:p>&lt;i&gt;Background\/Aims:&lt;\/i&gt; 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\u2013381]. This gene lies within a region on the genome that has been linked to late onset Alzheimer\u2019s disease (LOAD) [Myers A, et al.: Am J Med Genet 2002;114:233\u2013242]. In this study, we investigated whether variation within VCP could account for the LOAD linkage peak on chromosome 9. &lt;i&gt;Methods:&lt;\/i&gt; 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\u2019s disease. &lt;i&gt;Results:&lt;\/i&gt; 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. &lt;i&gt;Conclusions:&lt;\/i&gt; 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.<\/jats:p>","DOI":"10.1159\/000105158","type":"journal-article","created":{"date-parts":[[2007,7,6]],"date-time":"2007-07-06T12:58:57Z","timestamp":1183726737000},"page":"376-381","source":"Crossref","is-referenced-by-count":24,"title":["Identification of a Novel Valosin-Containing Protein Polymorphism in Late-Onset Alzheimer\u2019s Disease"],"prefix":"10.1159","volume":"4","author":[{"given":"M.","family":"Kaleem","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Hamshere","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.J.","family":"Myers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2007,7,6]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016%2FS0531-5565%2800%2900196-0"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.10183"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2Fddg037"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1332"}],"container-title":["Neurodegenerative Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/105158","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/105158","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:01:55Z","timestamp":1745463715000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000105158"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007]]},"references-count":4,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2007,7,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000105158","archive":["Portico"],"relation":{},"ISSN":["1660-2854","1660-2862"],"issn-type":[{"type":"print","value":"1660-2854"},{"type":"electronic","value":"1660-2862"}],"subject":[],"published":{"date-parts":[[2007]]}}}