{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:56:01Z","timestamp":1745470561805,"version":"3.40.4"},"reference-count":14,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2008,1,1]],"date-time":"2008-01-01T00:00:00Z","timestamp":1199145600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2008,1,1]],"date-time":"2008-01-01T00:00:00Z","timestamp":1199145600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dement Geriatr Cogn Disord"],"published-print":{"date-parts":[[2008]]},"abstract":"Late-onset Alzheimer\u2019s disease (LOAD) is the most common neurodegenerative disorder, and has a complex etiology. Recently an intronic polymorphism in the ubiquilin 1 gene <i>(UBQLN1)<\/i> and a particular haplotype was reported to be associated with LOAD. We investigated whether variants in <i>UBQLN1<\/i> confer a risk for the disease in 407 Polish LOAD patients and 407 controls. We observed a weak association with the rs2781002 polymorphism, however, contrary to the initial reports, in our group the association was with the A allele. Risk estimation for AA versus GG genotypes showed that the AA genotype is a weak risk factor for AD (OR = 1.8, 95% CI = 1.1\u20133.1, p = 0.025). This effect was stronger in a group of LOAD patients without <i>APOE4<\/i> allele. Haplotype analyses indicate that there is an increase of haplotypes with an A allele in the case group. Also, the specific haplotypes with the A allele that increase AD risk differ between the <i>APOE4-<\/i>positive and <i>APOE4-<\/i>negative pools. However, the association observed seems to be driven mostly by rare (<5%) haplotypes. Results suggest a need for additional association studies and in silico analysis of the <i>UBQLN1<\/i> locus.<\/jats:p>","DOI":"10.1159\/000121006","type":"journal-article","created":{"date-parts":[[2008,3,14]],"date-time":"2008-03-14T11:35:25Z","timestamp":1205494525000},"page":"366-371","source":"Crossref","is-referenced-by-count":9,"title":["Analysis of <i>UBQLN1<\/i> Variants in a Polish Alzheimer\u2019s Disease Patient: Control Series"],"prefix":"10.1159","volume":"25","author":[{"given":"Maciej P.","family":"Golan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stacey","family":"Melquist","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Krzysztof","family":"Safranow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Styczy\u0144ska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnieszka","family":"S\u0142owik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ma\u0142gorzata","family":"Kobry\u015b","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cezary","family":"\u017bekanowski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Barcikowska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2008,3,14]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00702-002-0775-7"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2Fddg007"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.10183"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1056%2FNEJMoa042765"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.mp.4001775"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.nbd.2006.01.007"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002%2Fana.20673"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.neulet.2005.08.064"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.neulet.2007.07.015"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016%2FS0304-3940%2803%2900438-5"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1212%2FWNL.34.7.939"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.2307%2F2533494"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1086%2F338688"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1074%2Fjbc.M601085200"}],"container-title":["Dementia and Geriatric Cognitive Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/121006","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/121006","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T01:58:22Z","timestamp":1745459902000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000121006"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008]]},"references-count":14,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2008,4,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000121006","archive":["Portico"],"relation":{},"ISSN":["1420-8008","1421-9824"],"issn-type":[{"type":"print","value":"1420-8008"},{"type":"electronic","value":"1421-9824"}],"subject":[],"published":{"date-parts":[[2008]]}}}