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dc.contributor.authorM. Maraganore, Demetriusen_US
dc.contributor.authorG. Lesnick, Timothyen_US
dc.contributor.authorElbaz, Alexisen_US
dc.contributor.authorChartier-Harlin, Marie-Christineen_US
dc.contributor.authorGasser, Thomasen_US
dc.contributor.authorKruger, Rejkoen_US
dc.contributor.authorHattori, Nobutakaen_US
dc.contributor.authorD. Mellick, Georgeen_US
dc.contributor.authorQuattrone, Aldoen_US
dc.contributor.authorSatoh, Jun-ichien_US
dc.contributor.authorToda, Taksushien_US
dc.contributor.authorWang, Jianen_US
dc.contributor.authorP. A. Ioannidis, Johnen_US
dc.contributor.authorAndrade, Marizaen_US
dc.contributor.authorA. Rocca, Walteren_US
dc.contributor.authorGenetics Consortium, UCHL1 Globalen_US
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.en_US
dc.publisherWILEY-LISS, INC.en_US
dc.publisher.placeUnited Statesen_US
dc.relation.ispartofjournalAnnals of Neurologyen_US
dc.titleUCHL1 Is a Parkinson's Disease Susceptibility Geneen_US
dc.typeJournal articleen_US
dc.type.descriptionC1 - Peer Reviewed (HERDC)en_US
dc.type.codeC - Journal Articlesen_US
gro.description.notepublicTaksushi Toda should have been spelled Tatsushi Todaen_US
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.en_US
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