Association of SNCA with Parkinson: Replication in the Harvard NeuroDiscovery Center Biomarker Study
Identifieur interne : 001800 ( Main/Curation ); précédent : 001799; suivant : 001801Association 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 :
- Movement Disorders [ 0885-3185 ] ; 2011-10.
English descriptors
- KwdEn :
- Aged, Female, GATA transcription factors, Genetic Predisposition to Disease (genetics), Genome-Wide Association Study, Humans, Introns (genetics), Male, Middle Aged, Parkinson Disease (genetics), Parkinson's disease, Polymorphism, Single Nucleotide (genetics), alpha-Synuclein (genetics), biomarker, genome‐wide association study, α‐synuclein.
- 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
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:
- https://api.istex.fr/document/8BF7AF73D0946E92F0CDF290EDB748ABAF15D904/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3337217
DOI: 10.1002/mds.23934
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ISTEX:8BF7AF73D0946E92F0CDF290EDB748ABAF15D904Le document en format XML
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<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
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<author><name sortKey="Santarlasci, Andrea" sort="Santarlasci, Andrea" uniqKey="Santarlasci A" first="Andrea" last="Santarlasci">Andrea Santarlasci</name>
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<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
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<author><name sortKey="Swords, Kyleen E" sort="Swords, Kyleen E" uniqKey="Swords K" first="Kyleen E." last="Swords">Kyleen E. Swords</name>
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</placeName>
</affiliation>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ravina, Bernard M" sort="Ravina, Bernard M" uniqKey="Ravina B" first="Bernard M." last="Ravina">Bernard M. Ravina</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Translational Neurology, Biogen Idec, Inc., Cambridge, Massachusetts</wicri:regionArea>
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<author><name sortKey="Hayes, Michael T" sort="Hayes, Michael T" uniqKey="Hayes M" first="Michael T." last="Hayes">Michael T. Hayes</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sohur, U Shivraj" sort="Sohur, U Shivraj" uniqKey="Sohur U" first="U. Shivraj" last="Sohur">U. Shivraj Sohur</name>
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<wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
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<author><name sortKey="Wills, Anne Arie" sort="Wills, Anne Arie" uniqKey="Wills A" first="Anne-Marie" last="Wills">Anne-Marie Wills</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Flaherty, Alice W" sort="Flaherty, Alice W" uniqKey="Flaherty A" first="Alice W." last="Flaherty">Alice W. Flaherty</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
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<author><name sortKey="Unni, Vivek K" sort="Unni, Vivek K" uniqKey="Unni V" first="Vivek K." last="Unni">Vivek K. Unni</name>
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<wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
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</placeName>
</affiliation>
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<author><name sortKey="Hung, Albert Y" sort="Hung, Albert Y" uniqKey="Hung A" first="Albert Y." last="Hung">Albert Y. Hung</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Selkoe, Dennis J" sort="Selkoe, Dennis J" uniqKey="Selkoe D" first="Dennis J." last="Selkoe">Dennis J. Selkoe</name>
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<wicri:regionArea>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
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<author><name sortKey="Schwarzschild, Michael A" sort="Schwarzschild, Michael A" uniqKey="Schwarzschild M" first="Michael A." last="Schwarzschild">Michael A. Schwarzschild</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
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<author><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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</affiliation>
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<author><name sortKey="Sudarsky, Lewis R" sort="Sudarsky, Lewis R" uniqKey="Sudarsky L" first="Lewis R." last="Sudarsky">Lewis R. Sudarsky</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
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<author><name sortKey="Growdon, John H" sort="Growdon, John H" uniqKey="Growdon J" first="John H." last="Growdon">John H. Growdon</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ivinson, Adrian J" sort="Ivinson, Adrian J" uniqKey="Ivinson A" first="Adrian J." last="Ivinson">Adrian J. Ivinson</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
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<author><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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<wicri:regionArea>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Scherzer, Clemens R" sort="Scherzer, Clemens R" uniqKey="Scherzer C" first="Clemens R." last="Scherzer">Clemens R. Scherzer</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<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>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term>
<term>Female</term>
<term>GATA transcription factors</term>
<term>Genetic Predisposition to Disease (genetics)</term>
<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>Parkinson's disease</term>
<term>Polymorphism, Single Nucleotide (genetics)</term>
<term>alpha-Synuclein (genetics)</term>
<term>biomarker</term>
<term>genome‐wide association study</term>
<term>α‐synuclein</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>alpha-Synuclein</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genetic Predisposition to Disease</term>
<term>Introns</term>
<term>Parkinson Disease</term>
<term>Polymorphism, Single Nucleotide</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Aged</term>
<term>Female</term>
<term>Genome-Wide Association Study</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</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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