作者
Demetrius M Maraganore, Timothy G Lesnick, Alexis Elbaz, Marie‐Christine Chartier‐Harlin, Thomas Gasser, Rejko Krüger, Nobutaka Hattori, George D Mellick, Aldo Quattrone, Jun‐Ichi Satoh, Taksushi Toda, Jian Wang, John PA Ioannidis, Mariza De Andrade, Walter A Rocca, UCHL1 Global Genetics Consortium
发表日期
2004/4
期刊
Annals of neurology
卷号
55
期号
4
页码范围
512-521
出版商
Wiley Subscription Services, Inc., A Wiley Company
简介
An Erratum has been published for this article in Ann Neurol 2004;55:899.
The 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 …
引用总数
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学术搜索中的文章
DM Maraganore, TG Lesnick, A Elbaz… - Annals of neurology, 2004