Movement Disorders (revue)

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Association of SNCA with Parkinson: Replication in the Harvard NeuroDiscovery Center Biomarker Study

Identifieur interne : 000D71 ( Istex/Curation ); précédent : 000D70; suivant : 000D72

Association of SNCA with Parkinson: Replication in the Harvard NeuroDiscovery Center Biomarker Study

Auteurs : Hongliu Ding [États-Unis] ; Alison K. Sarokhan [États-Unis] ; Sarah S. Roderick [États-Unis] ; Rachit Bakshi [États-Unis] ; Nancy E. Maher [États-Unis] ; Paymon Ashourian [États-Unis] ; Caroline G. Kan [États-Unis] ; Sunny Chang [États-Unis] ; Andrea Santarlasci [États-Unis] ; Kyleen E. Swords [États-Unis] ; Bernard M. Ravina [États-Unis] ; Michael T. Hayes [États-Unis] ; U. Shivraj Sohur [États-Unis] ; Anne-Marie Wills [États-Unis] ; Alice W. Flaherty [États-Unis] ; Vivek K. Unni [États-Unis] ; Albert Y. Hung [États-Unis] ; Dennis J. Selkoe [États-Unis] ; Michael A. Schwarzschild [États-Unis] ; Michael G. Schlossmacher [Canada] ; Lewis R. Sudarsky [États-Unis] ; John H. Growdon [États-Unis] ; Adrian J. Ivinson [États-Unis] ; Bradley T. Hyman [États-Unis] ; Clemens R. Scherzer [États-Unis]

Source :

RBID : ISTEX:8BF7AF73D0946E92F0CDF290EDB748ABAF15D904

English descriptors

Abstract

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. 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. Results:: The common minor allele of rs2736990 was associated with elevated disease susceptibility (odds ratio, 1.40; P = .0032). Conclusions:: This result increases confidence in the notion that in many clinically well‐characterized patients, genetic variation in SNCA contributes to “sporadic” disease. © 2011 Movement Disorder Society

Url:
DOI: 10.1002/mds.23934

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ISTEX:8BF7AF73D0946E92F0CDF290EDB748ABAF15D904

Le document en format XML

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<name sortKey="Kan, Caroline G" sort="Kan, Caroline G" uniqKey="Kan C" first="Caroline G." last="Kan">Caroline G. Kan</name>
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<wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts</wicri:regionArea>
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<wicri:regionArea>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts</wicri:regionArea>
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<wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
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<wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
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<wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
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<mods:affiliation>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA</mods:affiliation>
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<wicri:regionArea>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts</wicri:regionArea>
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<wicri:regionArea>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts</wicri:regionArea>
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<wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
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<name sortKey="Schlossmacher, Michael G" sort="Schlossmacher, Michael G" uniqKey="Schlossmacher M" first="Michael G." last="Schlossmacher">Michael G. Schlossmacher</name>
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<name sortKey="Sudarsky, Lewis R" sort="Sudarsky, Lewis R" uniqKey="Sudarsky L" first="Lewis R." last="Sudarsky">Lewis R. Sudarsky</name>
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<mods:affiliation>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts</wicri:regionArea>
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<name sortKey="Growdon, John H" sort="Growdon, John H" uniqKey="Growdon J" first="John H." last="Growdon">John H. Growdon</name>
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<wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
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<name sortKey="Ivinson, Adrian J" sort="Ivinson, Adrian J" uniqKey="Ivinson A" first="Adrian J." last="Ivinson">Adrian J. Ivinson</name>
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<name sortKey="Hyman, Bradley T" sort="Hyman, Bradley T" uniqKey="Hyman B" first="Bradley T." last="Hyman">Bradley T. Hyman</name>
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<name sortKey="Scherzer, Clemens R" sort="Scherzer, Clemens R" uniqKey="Scherzer C" first="Clemens R." last="Scherzer">Clemens R. Scherzer</name>
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<wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
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<series>
<title level="j">Movement Disorders</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint>
<publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2011-10">2011-10</date>
<biblScope unit="vol">26</biblScope>
<biblScope unit="issue">12</biblScope>
<biblScope unit="page" from="2283">2283</biblScope>
<biblScope unit="page" to="2286">2286</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">8BF7AF73D0946E92F0CDF290EDB748ABAF15D904</idno>
<idno type="DOI">10.1002/mds.23934</idno>
<idno type="ArticleID">MDS23934</idno>
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<idno type="ISSN">0885-3185</idno>
</seriesStmt>
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<textClass>
<keywords scheme="KwdEn" xml:lang="en">
<term>GATA transcription factors</term>
<term>Parkinson's disease</term>
<term>biomarker</term>
<term>genome‐wide association study</term>
<term>α‐synuclein</term>
</keywords>
</textClass>
<langUsage>
<language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">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. 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. Results:: The common minor allele of rs2736990 was associated with elevated disease susceptibility (odds ratio, 1.40; P = .0032). Conclusions:: This result increases confidence in the notion that in many clinically well‐characterized patients, genetic variation in SNCA contributes to “sporadic” disease. © 2011 Movement Disorder Society</div>
</front>
</TEI>
</record>

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