Movement Disorders (revue)

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Alpha‐synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population

Identifieur interne : 001549 ( Istex/Curation ); précédent : 001548; suivant : 001550

Alpha‐synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population

Auteurs : Alex Rajput [Canada] ; Carles Vilari O-Güell [États-Unis] ; Michele L. Rajput [Canada] ; Owen A. Ross [États-Unis] ; Alexandra I. Soto-Ortolaza [États-Unis] ; Sarah J. Lincoln [États-Unis] ; Stephanie A. Cobb [États-Unis] ; Michael G. Heckman [États-Unis] ; Matthew J. Farrer [États-Unis] ; Ali Rajput [Canada]

Source :

RBID : ISTEX:6912C08AC993104A48B092A1B64FF94E91F653CA

English descriptors

Abstract

Alpha‐synuclein gene (SNCA) mutations cause familial Parkinsonism but the role of SNCA variability in idiopathic Parkinson's disease (PD) remains incompletely defined. We report a study of SNCA genetic variation in 452 idiopathic PD cases and 245 controls. SNCA copy number mutations were not associated with early‐onset disease in this population. The minor allele “G” at rs356165 was associated with increased odds of PD (P = 0.013) and genetic variation in D4S3481 (Rep1) was associated with age of disease onset (P = 0.007). There was a trend toward association between variation at rs2583988 and rapid PD progression. © 2009 Movement Disorder Society

Url:
DOI: 10.1002/mds.22795

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ISTEX:6912C08AC993104A48B092A1B64FF94E91F653CA

Le document en format XML

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<div type="abstract" xml:lang="en">Alpha‐synuclein gene (SNCA) mutations cause familial Parkinsonism but the role of SNCA variability in idiopathic Parkinson's disease (PD) remains incompletely defined. We report a study of SNCA genetic variation in 452 idiopathic PD cases and 245 controls. SNCA copy number mutations were not associated with early‐onset disease in this population. The minor allele “G” at rs356165 was associated with increased odds of PD (P = 0.013) and genetic variation in D4S3481 (Rep1) was associated with age of disease onset (P = 0.007). There was a trend toward association between variation at rs2583988 and rapid PD progression. © 2009 Movement Disorder Society</div>
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