Association of SNCA with Parkinson: Replication in the Harvard NeuroDiscovery Center Biomarker Study
Identifieur interne : 000994 ( PascalFrancis/Curation ); précédent : 000993; suivant : 000995Association 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 :
- Movement disorders [ 0885-3185 ] ; 2011.
Descripteurs français
- Pascal (Inist)
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.
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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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</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Massachusetts General Hospital</s1>
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</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="1"><inist: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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<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School</s1>
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<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Massachusetts General Hospital</s1>
<s2>Boston, Massachusetts</s2>
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<country>États-Unis</country>
</affiliation>
<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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</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">11-0481764</idno>
<date when="2011">2011</date>
<idno type="stanalyst">PASCAL 11-0481764 INIST</idno>
<idno type="RBID">Pascal:11-0481764</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000269</idno>
<idno type="wicri:Area/PascalFrancis/Curation">000994</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Association of SNCA with Parkinson: Replication in the Harvard NeuroDiscovery Center Biomarker Study</title>
<author><name sortKey="Hongliu Ding" sort="Hongliu Ding" uniqKey="Hongliu Ding" last="Hongliu Ding">HONGLIU DING</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital</s1>
<s2>Cambridge, Massachusetts</s2>
<s3>USA</s3>
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<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Sarokhan, Alison K" sort="Sarokhan, Alison K" uniqKey="Sarokhan A" first="Alison K." last="Sarokhan">Alison K. Sarokhan</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital</s1>
<s2>Cambridge, Massachusetts</s2>
<s3>USA</s3>
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<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School</s1>
<s2>Cambridge, Massachusetts</s2>
<s3>USA</s3>
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<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Roderick, Sarah S" sort="Roderick, Sarah S" uniqKey="Roderick S" first="Sarah S." last="Roderick">Sarah S. Roderick</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital</s1>
<s2>Cambridge, Massachusetts</s2>
<s3>USA</s3>
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</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School</s1>
<s2>Cambridge, Massachusetts</s2>
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<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Bakshi, Rachit" sort="Bakshi, Rachit" uniqKey="Bakshi R" first="Rachit" last="Bakshi">Rachit Bakshi</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital</s1>
<s2>Cambridge, Massachusetts</s2>
<s3>USA</s3>
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<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Maher, Nancy E" sort="Maher, Nancy E" uniqKey="Maher N" first="Nancy E." last="Maher">Nancy E. Maher</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital</s1>
<s2>Cambridge, Massachusetts</s2>
<s3>USA</s3>
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<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School</s1>
<s2>Cambridge, Massachusetts</s2>
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<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Ashourian, Paymon" sort="Ashourian, Paymon" uniqKey="Ashourian P" first="Paymon" last="Ashourian">Paymon Ashourian</name>
<affiliation wicri:level="1"><inist: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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</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist: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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</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Kan, Caroline G" sort="Kan, Caroline G" uniqKey="Kan C" first="Caroline G." last="Kan">Caroline G. Kan</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital</s1>
<s2>Cambridge, Massachusetts</s2>
<s3>USA</s3>
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<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School</s1>
<s2>Cambridge, Massachusetts</s2>
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<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Chang, Sunny" sort="Chang, Sunny" uniqKey="Chang S" first="Sunny" last="Chang">Sunny Chang</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital</s1>
<s2>Cambridge, Massachusetts</s2>
<s3>USA</s3>
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</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School</s1>
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<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Santarlasci, Andrea" sort="Santarlasci, Andrea" uniqKey="Santarlasci A" first="Andrea" last="Santarlasci">Andrea Santarlasci</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School</s1>
<s2>Cambridge, Massachusetts</s2>
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</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Massachusetts General Hospital</s1>
<s2>Boston, Massachusetts</s2>
<s3>USA</s3>
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<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Swords, Kyleen E" sort="Swords, Kyleen E" uniqKey="Swords K" first="Kyleen E." last="Swords">Kyleen E. Swords</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School</s1>
<s2>Cambridge, Massachusetts</s2>
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</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Psychiatry, Massachusetts General Hospital</s1>
<s2>Boston, Massachusetts</s2>
<s3>USA</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</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="1"><inist:fA14 i1="06"><s1>Translational Neurology, Biogen Idec, Inc.</s1>
<s2>Cambridge, Massachusetts</s2>
<s3>USA</s3>
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</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<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="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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</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Shivraj Sohur, U" sort="Shivraj Sohur, U" uniqKey="Shivraj Sohur U" first="U." last="Shivraj Sohur">U. Shivraj Sohur</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Massachusetts General Hospital</s1>
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<s3>USA</s3>
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<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Wills, Anne Marie" sort="Wills, Anne Marie" uniqKey="Wills A" first="Anne-Marie" last="Wills">Anne-Marie Wills</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Massachusetts General Hospital</s1>
<s2>Boston, Massachusetts</s2>
<s3>USA</s3>
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<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Laherty, Alice W F" sort="Laherty, Alice W F" uniqKey="Laherty A" first="Alice W. F" last="Laherty">Alice W. F. Laherty</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Massachusetts General Hospital</s1>
<s2>Boston, Massachusetts</s2>
<s3>USA</s3>
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<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Unni, Vivek K" sort="Unni, Vivek K" uniqKey="Unni V" first="Vivek K." last="Unni">Vivek K. Unni</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Massachusetts General Hospital</s1>
<s2>Boston, Massachusetts</s2>
<s3>USA</s3>
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<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Ung, Albert Y H" sort="Ung, Albert Y H" uniqKey="Ung A" first="Albert Y. H" last="Ung">Albert Y. H. Ung</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Massachusetts General Hospital</s1>
<s2>Boston, Massachusetts</s2>
<s3>USA</s3>
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</inist:fA14>
<country>États-Unis</country>
</affiliation>
<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>
<sZ>12 aut.</sZ>
<sZ>17 aut.</sZ>
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</inist:fA14>
<country>États-Unis</country>
</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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<author><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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<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Massachusetts General Hospital</s1>
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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>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
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</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>
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<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>
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<fA14 i1="04"><s1>Department of Neurology, Massachusetts General Hospital</s1>
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