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dc.contributor.authorMaraganore, DM
dc.contributor.authorLesnick, TG
dc.contributor.authorElbaz, A
dc.contributor.authorChartier-Harlin, MC
dc.contributor.authorGasser, T
dc.contributor.authorKruger, R
dc.contributor.authorHattori, N
dc.contributor.authorMellick, GD
dc.contributor.authorQuattrone, A
dc.contributor.authorSatoh, J
dc.contributor.authorToda, T
dc.contributor.authorWang, J
dc.contributor.authorIoannidis, JPA
dc.contributor.authorde Andrade, M
dc.contributor.authorRocca, WA
dc.description.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.
dc.publisherWILEY-LISS, INC.
dc.publisher.placeUnited States
dc.relation.ispartofjournalAnnals of Neurology
dc.subject.fieldofresearchClinical Sciences
dc.titleUCHL1 Is a Parkinson's Disease Susceptibility Gene
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
gro.description.notepublicTaksushi Toda should have been spelled Tatsushi Toda
gro.rights.copyrightSelf-archiving of the author-manuscript version is not yet supported by this journal. Please refer to the journal link for access to the definitive, published version or contact the author[s] for more information.
gro.hasfulltextNo Full Text
gro.griffith.authorMellick, George

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