UCHL1 is a Parkinson's disease susceptibility gene

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dc.contributor.authorMaraganore, D. M.en
dc.contributor.authorLesnick, T. G.en
dc.contributor.authorElbaz, A.en
dc.contributor.authorChartier-Harlin, M. C.en
dc.contributor.authorGasser, T.en
dc.contributor.authorKruger, R.en
dc.contributor.authorHattori, N.en
dc.contributor.authorMellick, G. D.en
dc.contributor.authorQuattrone, A.en
dc.contributor.authorSatoh, J.en
dc.contributor.authorToda, T.en
dc.contributor.authorWang, J.en
dc.contributor.authorIoannidis, J. P.en
dc.contributor.authorde Andrade, M.en
dc.contributor.authorRocca, W. A.en
dc.date.accessioned2015-11-24T19:00:44Z
dc.date.available2015-11-24T19:00:44Z
dc.identifier.issn0364-5134-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/19587
dc.rightsDefault Licence-
dc.subjectAdulten
dc.subjectAgeden
dc.subjectAged, 80 and overen
dc.subjectAntigens, CD45/geneticsen
dc.subjectConfidence Intervalsen
dc.subjectFemaleen
dc.subjectGenetic Predisposition to Disease/*geneticsen
dc.subjectGenetic Variation/geneticsen
dc.subjectGenotypeen
dc.subjectHumansen
dc.subjectLogistic Modelsen
dc.subjectMaleen
dc.subjectMiddle Ageden
dc.subjectOdds Ratioen
dc.subjectParkinson Disease/enzymology/*geneticsen
dc.subjectUbiquitin Thiolesterase/*geneticsen
dc.titleUCHL1 is a Parkinson's disease susceptibility geneen
heal.abstractThe reported inverse association between the S18Y variant of the ubiquitin carboxy-terminal hydrolase L1 (UCHL1) gene and Parkinson's disease (PD) has strong biological plausibility. If confirmed, genetic association of this variant with PD may support molecular targeting of the UCHL1 gene and its product as a therapeutic strategy for PD. In this light, we performed a collaborative pooled analysis of individual-level data from all 11 published studies of the UCHL1 S18Y gene variant and PD. There were 1,970 cases and 2,224 unrelated controls. We found a statistically significant inverse association of S18Y with PD. Carriers of the variant allele (Y/Y plus Y/S vs S/S) had an odds ratio (OR) of 0.84 (95% confidence interval [CI], 0.73-0.95) and homozygotes for the variant allele (Y/Y vs S/S plus Y/S) had an OR of 0.71 (95% CI, 0.57-0.88). There was a linear trend in the log OR consistent with a gene dose effect (p = 0.01). The inverse association was most apparent for young cases compared with young controls. There was no evidence for publication bias and the associations remained significant after excluding the first published, hypothesis-generating study. These findings confirm that UCHL1 is a susceptibility gene for PD and a potential target for disease-modifying therapies.en
heal.accesscampus-
heal.fullTextAvailabilityTRUE-
heal.identifier.primary10.1002/ana.20017-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/15048890-
heal.identifier.secondaryhttp://onlinelibrary.wiley.com/store/10.1002/ana.20017/asset/20017_ftp.pdf?v=1&t=h0jenpx8&s=8ec12a0cac36f8782a3a2f9aabbc3a02fc45f2b0-
heal.journalNameAnn Neurolen
heal.journalTypepeer-reviewed-
heal.languageen-
heal.publicationDate2004-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.typejournalArticle-
heal.type.elΆρθρο Περιοδικούel
heal.type.enJournal articleen

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