La maladie de Parkinson au Canada (serveur d'exploration)

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

Identifieur interne : 000994 ( PascalFrancis/Curation ); précédent : 000993; suivant : 000995

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. F. Laherty [États-Unis] ; Vivek K. Unni [États-Unis] ; Albert Y. H. Ung [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 : Pascal:11-0481764

Descripteurs français

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.
pA  
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A08 01  1  ENG  @1 Association of SNCA with Parkinson: Replication in the Harvard NeuroDiscovery Center Biomarker Study
A11 01  1    @1 HONGLIU DING
A11 02  1    @1 SAROKHAN (Alison K.)
A11 03  1    @1 RODERICK (Sarah S.)
A11 04  1    @1 BAKSHI (Rachit)
A11 05  1    @1 MAHER (Nancy E.)
A11 06  1    @1 ASHOURIAN (Paymon)
A11 07  1    @1 KAN (Caroline G.)
A11 08  1    @1 CHANG (Sunny)
A11 09  1    @1 SANTARLASCI (Andrea)
A11 10  1    @1 SWORDS (Kyleen E.)
A11 11  1    @1 RAVINA (Bernard M.)
A11 12  1    @1 HAYES (Michael T.)
A11 13  1    @1 SHIVRAJ SOHUR (U.)
A11 14  1    @1 WILLS (Anne-Marie)
A11 15  1    @1 LAHERTY (Alice W. F)
A11 16  1    @1 UNNI (Vivek K.)
A11 17  1    @1 UNG (Albert Y. H)
A11 18  1    @1 SELKOE (Dennis J.)
A11 19  1    @1 SCHWARZSCHILD (Michael A.)
A11 20  1    @1 SCHLOSSMACHER (Michael G.)
A11 21  1    @1 SUDARSKY (Lewis R.)
A11 22  1    @1 GROWDON (John H.)
A11 23  1    @1 IVINSON (Adrian J.)
A11 24  1    @1 HYMAN (Bradley T.)
A11 25  1    @1 SCHERZER (Clemens R.)
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A14 03      @1 Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology @2 Cambridge, Massachusetts @3 USA @Z 6 aut.
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A14 08      @1 University of Ottawa @2 Ottawa, Ontario @3 CAN @Z 20 aut.
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A21       @1 2011
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A44       @0 0000 @1 © 2011 INIST-CNRS. All rights reserved.
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C01 01    ENG  @0 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.
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C02 02  X    @0 002B17G
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C03 01  X  ENG  @0 Parkinson disease @2 NM @5 01
C03 01  X  SPA  @0 Parkinson enfermedad @2 NM @5 01
C03 02  X  FRE  @0 Pathologie du système nerveux @5 02
C03 02  X  ENG  @0 Nervous system diseases @5 02
C03 02  X  SPA  @0 Sistema nervioso patología @5 02
C03 03  X  FRE  @0 Réplication @5 09
C03 03  X  ENG  @0 Replication @5 09
C03 03  X  SPA  @0 Replicación @5 09
C03 04  X  FRE  @0 Génome @5 10
C03 04  X  ENG  @0 Genome @5 10
C03 04  X  SPA  @0 Genoma @5 10
C07 01  X  FRE  @0 Pathologie de l'encéphale @5 37
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C07 02  X  FRE  @0 Syndrome extrapyramidal @5 38
C07 02  X  ENG  @0 Extrapyramidal syndrome @5 38
C07 02  X  SPA  @0 Extrapiramidal síndrome @5 38
C07 03  X  FRE  @0 Maladie dégénérative @5 39
C07 03  X  ENG  @0 Degenerative disease @5 39
C07 03  X  SPA  @0 Enfermedad degenerativa @5 39
C07 04  X  FRE  @0 Pathologie du système nerveux central @5 40
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Pascal:11-0481764

Le document en format XML

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<title xml:lang="en" level="a">Association of SNCA with Parkinson: Replication in the Harvard NeuroDiscovery Center Biomarker Study</title>
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<s1>Department of Neurology, Massachusetts General Hospital</s1>
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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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<s1>University of Ottawa</s1>
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<s1>Department of Neurology, Brigham and Women's Hospital</s1>
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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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<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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<s1>Department of Neurology, Massachusetts General Hospital</s1>
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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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<s1>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital</s1>
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<s1>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School</s1>
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<affiliation wicri:level="1">
<inist:fA14 i1="04">
<s1>Department of Neurology, Massachusetts General Hospital</s1>
<s2>Boston, Massachusetts</s2>
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<affiliation wicri:level="1">
<inist:fA14 i1="07">
<s1>Department of Neurology, Brigham and Women's Hospital</s1>
<s2>Boston, Massachusetts</s2>
<s3>USA</s3>
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</analytic>
<series>
<title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint>
<date when="2011">2011</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt>
<title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc>
<textClass>
<keywords scheme="KwdEn" xml:lang="en">
<term>Genome</term>
<term>Nervous system diseases</term>
<term>Parkinson disease</term>
<term>Replication</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr">
<term>Maladie de Parkinson</term>
<term>Pathologie du système nerveux</term>
<term>Réplication</term>
<term>Génome</term>
</keywords>
</textClass>
</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.</div>
</front>
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<s1>Association of SNCA with Parkinson: Replication in the Harvard NeuroDiscovery Center Biomarker Study</s1>
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<s1>HONGLIU DING</s1>
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<s1>SAROKHAN (Alison K.)</s1>
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<s1>RODERICK (Sarah S.)</s1>
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<s1>SANTARLASCI (Andrea)</s1>
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<s1>HAYES (Michael T.)</s1>
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<s1>LAHERTY (Alice W. F)</s1>
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<s1>SCHWARZSCHILD (Michael A.)</s1>
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<s1>SCHLOSSMACHER (Michael G.)</s1>
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<s1>SUDARSKY (Lewis R.)</s1>
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<s1>GROWDON (John H.)</s1>
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<s1>IVINSON (Adrian J.)</s1>
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<s1>HYMAN (Bradley T.)</s1>
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<fA11 i1="25" i2="1">
<s1>SCHERZER (Clemens R.)</s1>
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<fA14 i1="01">
<s1>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital</s1>
<s2>Cambridge, Massachusetts</s2>
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<s1>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School</s1>
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<sZ>23 aut.</sZ>
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<fA14 i1="03">
<s1>Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology</s1>
<s2>Cambridge, Massachusetts</s2>
<s3>USA</s3>
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<fA14 i1="04">
<s1>Department of Neurology, Massachusetts General Hospital</s1>
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<fA14 i1="05">
<s1>Department of Psychiatry, Massachusetts General Hospital</s1>
<s2>Boston, Massachusetts</s2>
<s3>USA</s3>
<sZ>10 aut.</sZ>
</fA14>
<fA14 i1="06">
<s1>Translational Neurology, Biogen Idec, Inc.</s1>
<s2>Cambridge, Massachusetts</s2>
<s3>USA</s3>
<sZ>11 aut.</sZ>
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<fA14 i1="07">
<s1>Department of Neurology, Brigham and Women's Hospital</s1>
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<sZ>12 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>21 aut.</sZ>
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<fA14 i1="08">
<s1>University of Ottawa</s1>
<s2>Ottawa, Ontario</s2>
<s3>CAN</s3>
<sZ>20 aut.</sZ>
</fA14>
<fA20>
<s1>2283-2286</s1>
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<s1>2011</s1>
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<s0>ENG</s0>
</fA23>
<fA43 i1="01">
<s1>INIST</s1>
<s2>20953</s2>
<s5>354000505557630230</s5>
</fA43>
<fA44>
<s0>0000</s0>
<s1>© 2011 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45>
<s0>7 ref.</s0>
</fA45>
<fA47 i1="01" i2="1">
<s0>11-0481764</s0>
</fA47>
<fA60>
<s1>P</s1>
<s3>CC</s3>
</fA60>
<fA61>
<s0>A</s0>
</fA61>
<fA64 i1="01" i2="1">
<s0>Movement disorders</s0>
</fA64>
<fA66 i1="01">
<s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG">
<s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X">
<s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X">
<s0>002B17G</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE">
<s0>Maladie de Parkinson</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG">
<s0>Parkinson disease</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA">
<s0>Parkinson enfermedad</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE">
<s0>Pathologie du système nerveux</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG">
<s0>Nervous system diseases</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA">
<s0>Sistema nervioso patología</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE">
<s0>Réplication</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG">
<s0>Replication</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA">
<s0>Replicación</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE">
<s0>Génome</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG">
<s0>Genome</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA">
<s0>Genoma</s0>
<s5>10</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE">
<s0>Pathologie de l'encéphale</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG">
<s0>Cerebral disorder</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA">
<s0>Encéfalo patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE">
<s0>Syndrome extrapyramidal</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG">
<s0>Extrapyramidal syndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA">
<s0>Extrapiramidal síndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE">
<s0>Maladie dégénérative</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG">
<s0>Degenerative disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA">
<s0>Enfermedad degenerativa</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE">
<s0>Pathologie du système nerveux central</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG">
<s0>Central nervous system disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA">
<s0>Sistema nervosio central patología</s0>
<s5>40</s5>
</fC07>
<fN21>
<s1>332</s1>
</fN21>
<fN44 i1="01">
<s1>OTO</s1>
</fN44>
<fN82>
<s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>

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