Association of SNCA with Parkinson: replication in the Harvard NeuroDiscovery Center Biomarker Study.
Identifieur interne : 001026 ( PubMed/Curation ); précédent : 001025; suivant : 001027Association of SNCA with Parkinson: replication in the Harvard NeuroDiscovery Center Biomarker Study.
Auteurs : Hongliu Ding [États-Unis] ; Alison K. Sarokhan ; Sarah S. Roderick ; Rachit Bakshi ; Nancy E. Maher ; Paymon Ashourian ; Caroline G. Kan ; Sunny Chang ; Andrea Santarlasci ; Kyleen E. Swords ; Bernard M. Ravina ; Michael T. Hayes ; U Shivraj Sohur ; Anne-Marie Wills ; Alice W. Flaherty ; Vivek K. Unni ; Albert Y. Hung ; Dennis J. Selkoe ; Michael A. Schwarzschild ; Michael G. Schlossmacher ; Lewis R. Sudarsky ; John H. Growdon ; Adrian J. Ivinson ; Bradley T. Hyman ; Clemens R. ScherzerSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2011.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : alpha-Synuclein.
- genetics : Genetic Predisposition to Disease, Introns, Parkinson Disease, Polymorphism, Single Nucleotide.
- Aged, Female, Genome-Wide Association Study, Humans, Male, Middle Aged.
Abstract
Mutations in the α-synuclein gene (SNCA) cause autosomal dominant forms of Parkinson's disease, but the substantial risk conferred by this locus to the common sporadic disease has only recently emerged from genome-wide association studies.
DOI: 10.1002/mds.23934
PubMed: 21953863
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pubmed:21953863Le document en format XML
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<term>Genome-Wide Association Study</term>
<term>Humans</term>
<term>Introns (genetics)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Parkinson Disease (genetics)</term>
<term>Polymorphism, Single Nucleotide (genetics)</term>
<term>alpha-Synuclein (genetics)</term>
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<term>Parkinson Disease</term>
<term>Polymorphism, Single Nucleotide</term>
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<term>Female</term>
<term>Genome-Wide Association Study</term>
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<front><div type="abstract" xml:lang="en">Mutations in the α-synuclein gene (SNCA) cause autosomal dominant forms of Parkinson's disease, but the substantial risk conferred by this locus to the common sporadic disease has only recently emerged from genome-wide association studies.</div>
</front>
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<Month>10</Month>
<Day>24</Day>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
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<ArticleTitle>Association of SNCA with Parkinson: replication in the Harvard NeuroDiscovery Center Biomarker Study.</ArticleTitle>
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<Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Mutations in the α-synuclein gene (SNCA) cause autosomal dominant forms of Parkinson's disease, but the substantial risk conferred by this locus to the common sporadic disease has only recently emerged from genome-wide association studies.</AbstractText>
<AbstractText Label="METHODS" NlmCategory="METHODS">We genotyped a prioritized noncoding variant in SNCA intron 4 in 344 patients with Parkinson's disease and 275 controls from the longitudinal Harvard NeuroDiscovery Center Biomarker Study.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">The common minor allele of rs2736990 was associated with elevated disease susceptibility (odds ratio, 1.40; P = .0032).</AbstractText>
<AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">This result increases confidence in the notion that in many clinically well-characterized patients, genetic variation in SNCA contributes to "sporadic" disease.</AbstractText>
<CopyrightInformation>Copyright © 2011 Movement Disorder Society.</CopyrightInformation>
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<ForeName>Hongliu</ForeName>
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<Author ValidYN="Y"><LastName>Ivinson</LastName>
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<Author ValidYN="Y"><LastName>Hyman</LastName>
<ForeName>Bradley T</ForeName>
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