Association of SNCA with Parkinson: replication in the Harvard NeuroDiscovery Center Biomarker Study
Identifieur interne : 000188 ( Pmc/Curation ); précédent : 000187; suivant : 000189Association 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.
Abstract
Mutations in the α-synuclein gene (
Here we genotyped a prioritized non-coding variant in
The common minor allele of rs2736990 was associated with elevated disease susceptibility (odds ratio = 1.40,
This result increases confidence in the notion that in many clinically well-characterized patients genetic variation in
Url:
DOI: 10.1002/mds.23934
PubMed: 21953863
PubMed Central: 3337217
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PMC:3337217Le document en format XML
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Shivraj Sohur</name><affiliation wicri:level="1"><nlm:aff id="A3">Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea></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"><nlm:aff id="A3">Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea></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="1"><nlm:aff id="A3">Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea></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"><nlm:aff id="A3">Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea></affiliation></author><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="1"><nlm:aff id="A3">Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A4">Department of Neurology, Brigham and Women’s Hospital, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Brigham and Women’s Hospital, Boston, MA 02115</wicri:regionArea></affiliation></author><author><name sortKey="Selkoe, Dennis J" sort="Selkoe, Dennis J" uniqKey="Selkoe D" first="Dennis J." last="Selkoe">Dennis J. Selkoe</name><affiliation wicri:level="1"><nlm:aff id="A1">Center for Neurologic Diseases, Harvard Medical School and Brigham & Women’s Hospital, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women’s Hospital, Boston, MA 02115</wicri:regionArea></affiliation></author><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="1"><nlm:aff id="A3">Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea></affiliation></author><author><name sortKey="Schlossmacher, Michael G" sort="Schlossmacher, Michael G" uniqKey="Schlossmacher M" first="Michael G." last="Schlossmacher">Michael G. Schlossmacher</name><affiliation wicri:level="1"><nlm:aff id="A8">University of Ottawa, Ottawa, Ontario K1H 8M5, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>University of Ottawa, Ottawa, Ontario K1H 8M5</wicri:regionArea></affiliation></author><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="1"><nlm:aff id="A4">Department of Neurology, Brigham and Women’s Hospital, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Brigham and Women’s Hospital, Boston, MA 02115</wicri:regionArea></affiliation></author><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="1"><nlm:aff id="A3">Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea></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="1"><nlm:aff id="A2">Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Boston, MA 02115</wicri:regionArea></affiliation></author><author><name sortKey="Hyman, Bradley T" sort="Hyman, Bradley T" uniqKey="Hyman B" first="Bradley T." last="Hyman">Bradley T. Hyman</name><affiliation wicri:level="1"><nlm:aff id="A2">Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Boston, MA 02115</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A3">Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea></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="1"><nlm:aff id="A1">Center for Neurologic Diseases, Harvard Medical School and Brigham & Women’s Hospital, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women’s Hospital, Boston, MA 02115</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Boston, MA 02115</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A3">Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A4">Department of Neurology, Brigham and Women’s Hospital, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Brigham and Women’s Hospital, Boston, MA 02115</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">21953863</idno><idno type="pmc">3337217</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3337217</idno><idno type="RBID">PMC:3337217</idno><idno type="doi">10.1002/mds.23934</idno><date when="2011">2011</date><idno type="wicri:Area/Pmc/Corpus">000188</idno><idno type="wicri:Area/Pmc/Curation">000188</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Association of <italic>SNCA</italic> with Parkinson: replication in the Harvard NeuroDiscovery Center Biomarker Study</title><author><name sortKey="Ding, Hongliu" sort="Ding, Hongliu" uniqKey="Ding H" first="Hongliu" last="Ding">Hongliu Ding</name><affiliation wicri:level="1"><nlm:aff id="A1">Center for Neurologic Diseases, Harvard Medical School and Brigham & Women’s Hospital, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women’s Hospital, Boston, MA 02115</wicri:regionArea></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"><nlm:aff id="A1">Center for Neurologic Diseases, Harvard Medical School and Brigham & Women’s Hospital, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women’s Hospital, Boston, MA 02115</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Boston, MA 02115</wicri:regionArea></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"><nlm:aff id="A1">Center for Neurologic Diseases, Harvard Medical School and Brigham & Women’s Hospital, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women’s Hospital, Boston, MA 02115</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Boston, MA 02115</wicri:regionArea></affiliation></author><author><name sortKey="Bakshi, Rachit" sort="Bakshi, Rachit" uniqKey="Bakshi R" first="Rachit" last="Bakshi">Rachit Bakshi</name><affiliation wicri:level="1"><nlm:aff id="A1">Center for Neurologic Diseases, Harvard Medical School and Brigham & Women’s Hospital, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women’s Hospital, Boston, MA 02115</wicri:regionArea></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"><nlm:aff id="A1">Center for Neurologic Diseases, Harvard Medical School and Brigham & Women’s Hospital, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women’s Hospital, Boston, MA 02115</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Boston, MA 02115</wicri:regionArea></affiliation></author><author><name sortKey="Ashourian, Paymon" sort="Ashourian, Paymon" uniqKey="Ashourian P" first="Paymon" last="Ashourian">Paymon Ashourian</name><affiliation wicri:level="1"><nlm:aff id="A1">Center for Neurologic Diseases, Harvard Medical School and Brigham & Women’s Hospital, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women’s Hospital, Boston, MA 02115</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A5">Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, MA 02139, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, MA 02139</wicri:regionArea></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"><nlm:aff id="A1">Center for Neurologic Diseases, Harvard Medical School and Brigham & Women’s Hospital, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women’s Hospital, Boston, MA 02115</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Boston, MA 02115</wicri:regionArea></affiliation></author><author><name sortKey="Chang, Sunny" sort="Chang, Sunny" uniqKey="Chang S" first="Sunny" last="Chang">Sunny Chang</name><affiliation wicri:level="1"><nlm:aff id="A1">Center for Neurologic Diseases, Harvard Medical School and Brigham & Women’s Hospital, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women’s Hospital, Boston, MA 02115</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Boston, MA 02115</wicri:regionArea></affiliation></author><author><name sortKey="Santarlasci, Andrea" sort="Santarlasci, Andrea" uniqKey="Santarlasci A" first="Andrea" last="Santarlasci">Andrea Santarlasci</name><affiliation wicri:level="1"><nlm:aff id="A2">Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Boston, MA 02115</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A3">Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea></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"><nlm:aff id="A2">Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Boston, MA 02115</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A6">Department of Psychiatry, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Psychiatry, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea></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"><nlm:aff id="A7">Translational Neurology, Biogen Idec, Inc., Cambridge, MA 02142, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Translational Neurology, Biogen Idec, Inc., Cambridge, MA 02142</wicri:regionArea></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"><nlm:aff id="A4">Department of Neurology, Brigham and Women’s Hospital, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Brigham and Women’s Hospital, Boston, MA 02115</wicri:regionArea></affiliation></author><author><name sortKey="Sohur, U Shivraj" sort="Sohur, U Shivraj" uniqKey="Sohur U" first="U. Shivraj" last="Sohur">U. Shivraj Sohur</name><affiliation wicri:level="1"><nlm:aff id="A3">Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea></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"><nlm:aff id="A3">Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea></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="1"><nlm:aff id="A3">Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea></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"><nlm:aff id="A3">Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea></affiliation></author><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="1"><nlm:aff id="A3">Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A4">Department of Neurology, Brigham and Women’s Hospital, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Brigham and Women’s Hospital, Boston, MA 02115</wicri:regionArea></affiliation></author><author><name sortKey="Selkoe, Dennis J" sort="Selkoe, Dennis J" uniqKey="Selkoe D" first="Dennis J." last="Selkoe">Dennis J. Selkoe</name><affiliation wicri:level="1"><nlm:aff id="A1">Center for Neurologic Diseases, Harvard Medical School and Brigham & Women’s Hospital, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women’s Hospital, Boston, MA 02115</wicri:regionArea></affiliation></author><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="1"><nlm:aff id="A3">Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea></affiliation></author><author><name sortKey="Schlossmacher, Michael G" sort="Schlossmacher, Michael G" uniqKey="Schlossmacher M" first="Michael G." last="Schlossmacher">Michael G. Schlossmacher</name><affiliation wicri:level="1"><nlm:aff id="A8">University of Ottawa, Ottawa, Ontario K1H 8M5, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>University of Ottawa, Ottawa, Ontario K1H 8M5</wicri:regionArea></affiliation></author><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="1"><nlm:aff id="A4">Department of Neurology, Brigham and Women’s Hospital, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Brigham and Women’s Hospital, Boston, MA 02115</wicri:regionArea></affiliation></author><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="1"><nlm:aff id="A3">Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea></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="1"><nlm:aff id="A2">Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Boston, MA 02115</wicri:regionArea></affiliation></author><author><name sortKey="Hyman, Bradley T" sort="Hyman, Bradley T" uniqKey="Hyman B" first="Bradley T." last="Hyman">Bradley T. Hyman</name><affiliation wicri:level="1"><nlm:aff id="A2">Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Boston, MA 02115</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A3">Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea></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="1"><nlm:aff id="A1">Center for Neurologic Diseases, Harvard Medical School and Brigham & Women’s Hospital, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women’s Hospital, Boston, MA 02115</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Boston, MA 02115</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A3">Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A4">Department of Neurology, Brigham and Women’s Hospital, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Brigham and Women’s Hospital, Boston, MA 02115</wicri:regionArea></affiliation></author></analytic><series><title level="j">Movement Disorders</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="S1"><title>Background</title><p id="P1">Mutations in the α-synuclein gene (<italic>SNCA</italic>) 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.</p></sec><sec id="S2"><title>Methods</title><p id="P2">Here we genotyped a prioritized non-coding variant in <italic>SNCA</italic> intron-4 in 344 patients with Parkinson’s and 275 controls from the longitudinal Harvard NeuroDiscovery Center Biomarker Study.</p></sec><sec id="S3"><title>Results</title><p id="P3">The common minor allele of rs2736990 was associated with elevated disease susceptibility (odds ratio = 1.40, <italic>P</italic> value = 0.0032).</p></sec><sec id="S4"><title>Conclusions</title><p id="P4">This result increases confidence in the notion that in many clinically well-characterized patients genetic variation in <italic>SNCA</italic> contributes to “sporadic” disease.</p></sec></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">8610688</journal-id><journal-id journal-id-type="pubmed-jr-id">5937</journal-id><journal-id journal-id-type="nlm-ta">Mov Disord</journal-id><journal-id journal-id-type="iso-abbrev">Mov. Disord.</journal-id><journal-title-group><journal-title>Movement Disorders</journal-title></journal-title-group><issn pub-type="ppub">0885-3185</issn><issn pub-type="epub">1531-8257</issn></journal-meta><article-meta><article-id pub-id-type="pmid">21953863</article-id><article-id pub-id-type="pmc">3337217</article-id><article-id pub-id-type="doi">10.1002/mds.23934</article-id><article-id pub-id-type="manuscript">NIHMS316099</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Association of <italic>SNCA</italic> with Parkinson: replication in the Harvard NeuroDiscovery Center Biomarker Study</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Ding</surname><given-names>Hongliu</given-names></name><degrees>MD, PhD, MPH</degrees><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Sarokhan</surname><given-names>Alison K.</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Roderick</surname><given-names>Sarah S.</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Bakshi</surname><given-names>Rachit</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Maher</surname><given-names>Nancy E.</given-names></name><degrees>MPH</degrees><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Ashourian</surname><given-names>Paymon</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Kan</surname><given-names>Caroline G.</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Chang</surname><given-names>Sunny</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Santarlasci</surname><given-names>Andrea</given-names></name><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Swords</surname><given-names>Kyleen E.</given-names></name><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Ravina</surname><given-names>Bernard M.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Hayes</surname><given-names>Michael T.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Sohur</surname><given-names>U. Shivraj</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Wills</surname><given-names>Anne-Marie</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Flaherty</surname><given-names>Alice W.</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Unni</surname><given-names>Vivek K.</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Hung</surname><given-names>Albert Y.</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A3">3</xref><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Selkoe</surname><given-names>Dennis J.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Schwarzschild</surname><given-names>Michael A.</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Schlossmacher</surname><given-names>Michael G.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Sudarsky</surname><given-names>Lewis R.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Growdon</surname><given-names>John H.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Ivinson</surname><given-names>Adrian J.</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Hyman</surname><given-names>Bradley T.</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Scherzer</surname><given-names>Clemens R.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref><xref ref-type="aff" rid="A4">4</xref><xref rid="FN1" ref-type="author-notes">*</xref></contrib></contrib-group><aff id="A1"><label>1</label>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women’s Hospital, Boston, MA 02115, USA</aff><aff id="A2"><label>2</label>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Boston, MA 02115, USA</aff><aff id="A3"><label>3</label>Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA</aff><aff id="A4"><label>4</label>Department of Neurology, Brigham and Women’s Hospital, Boston, MA 02115, USA</aff><aff id="A5"><label>5</label>Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, MA 02139, USA</aff><aff id="A6"><label>6</label>Department of Psychiatry, Massachusetts General Hospital, Boston, MA 02114, USA</aff><aff id="A7"><label>7</label>Translational Neurology, Biogen Idec, Inc., Cambridge, MA 02142, USA</aff><aff id="A8"><label>8</label>University of Ottawa, Ottawa, Ontario K1H 8M5, Canada</aff><author-notes><corresp id="FN1"><label>*</label>Correspondence should be addressed to: Clemens R. Scherzer, M.D., Laboratory for Neurogenomics, Center for Neurologic Diseases, Harvard Medical School and Brigham & Women’s Hospital, 65 Landsdowne Street, Suite 307A, Cambridge, MA 02139, Phone: 617-768-8427, Fax: 617-768-8595, <email>cscherzer@rics.bwh.harvard.edu</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>1</day><month>9</month><year>2011</year></pub-date><pub-date pub-type="epub"><day>23</day><month>9</month><year>2011</year></pub-date><pub-date pub-type="ppub"><month>10</month><year>2011</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>10</month><year>2012</year></pub-date><volume>26</volume><issue>12</issue><fpage>2283</fpage><lpage>2286</lpage><abstract><sec id="S1"><title>Background</title><p id="P1">Mutations in the α-synuclein gene (<italic>SNCA</italic>) 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.</p></sec><sec id="S2"><title>Methods</title><p id="P2">Here we genotyped a prioritized non-coding variant in <italic>SNCA</italic> intron-4 in 344 patients with Parkinson’s and 275 controls from the longitudinal Harvard NeuroDiscovery Center Biomarker Study.</p></sec><sec id="S3"><title>Results</title><p id="P3">The common minor allele of rs2736990 was associated with elevated disease susceptibility (odds ratio = 1.40, <italic>P</italic> value = 0.0032).</p></sec><sec id="S4"><title>Conclusions</title><p id="P4">This result increases confidence in the notion that in many clinically well-characterized patients genetic variation in <italic>SNCA</italic> contributes to “sporadic” disease.</p></sec></abstract><kwd-group><kwd>Parkinson’s disease</kwd><kwd>α-synuclein</kwd><kwd>GATA transcription factors</kwd><kwd>biomarker</kwd><kwd>genome-wide association study</kwd></kwd-group><funding-group><award-group><funding-source country="United States">National Institute of Neurological Disorders and Stroke : NINDS</funding-source><award-id>R21 NS060227-01 || NS</award-id></award-group><award-group><funding-source country="United States">National Institute of Neurological Disorders and Stroke : NINDS</funding-source><award-id>R01 NS064155-02S1 || NS</award-id></award-group><award-group><funding-source country="United States">National Institute of Neurological Disorders and Stroke : NINDS</funding-source><award-id>R01 NS064155-01 || NS</award-id></award-group><award-group><funding-source country="United States">National Institute of Neurological Disorders and Stroke : NINDS</funding-source><award-id>K24 NS060991-05 || NS</award-id></award-group></funding-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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