Association of SNCA with Parkinson: Replication in the Harvard NeuroDiscovery Center Biomarker Study
Identifieur interne : 000D71 ( Istex/Corpus ); précédent : 000D70; suivant : 000D72Association of SNCA with Parkinson: Replication in the Harvard NeuroDiscovery Center Biomarker Study
Auteurs : Hongliu Ding ; Alison K. Sarokhan ; Sarah S. Roderick ; Rachit Bakshi ; Nancy E. Maher ; Paymon Ashourian ; Caroline G. Kan ; Sunny Chang ; Andrea Santarlasci ; Kyleen E. Swords ; Bernard M. Ravina ; Michael T. Hayes ; U. Shivraj Sohur ; Anne-Marie Wills ; Alice W. Flaherty ; Vivek K. Unni ; Albert Y. Hung ; Dennis J. Selkoe ; Michael A. Schwarzschild ; Michael G. Schlossmacher ; Lewis R. Sudarsky ; John H. Growdon ; Adrian J. Ivinson ; Bradley T. Hyman ; Clemens R. ScherzerSource :
- Movement Disorders [ 0885-3185 ] ; 2011-10.
English descriptors
- KwdEn :
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
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DOI: 10.1002/mds.23934
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Roderick</name><affiliation><mods:affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</mods:affiliation></affiliation></author><author><name sortKey="Bakshi, Rachit" sort="Bakshi, Rachit" uniqKey="Bakshi R" first="Rachit" last="Bakshi">Rachit Bakshi</name><affiliation><mods:affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</mods:affiliation></affiliation></author><author><name sortKey="Maher, Nancy E" sort="Maher, Nancy E" uniqKey="Maher N" first="Nancy E." last="Maher">Nancy E. 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Kan</name><affiliation><mods:affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</mods:affiliation></affiliation></author><author><name sortKey="Chang, Sunny" sort="Chang, Sunny" uniqKey="Chang S" first="Sunny" last="Chang">Sunny Chang</name><affiliation><mods:affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</mods:affiliation></affiliation></author><author><name sortKey="Santarlasci, Andrea" sort="Santarlasci, Andrea" uniqKey="Santarlasci A" first="Andrea" last="Santarlasci">Andrea Santarlasci</name><affiliation><mods:affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</mods:affiliation></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><mods:affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, USA</mods:affiliation></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><mods:affiliation>Translational Neurology, Biogen Idec, Inc., Cambridge, Massachusetts, USA</mods:affiliation></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><mods:affiliation>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA</mods:affiliation></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><mods:affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</mods:affiliation></affiliation></author><author><name sortKey="Wills, Anne Arie" sort="Wills, Anne Arie" uniqKey="Wills A" first="Anne-Marie" last="Wills">Anne-Marie Wills</name><affiliation><mods:affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</mods:affiliation></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><mods:affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</mods:affiliation></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><mods:affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</mods:affiliation></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><mods:affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA</mods:affiliation></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><mods:affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</mods:affiliation></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><mods:affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</mods:affiliation></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><mods:affiliation>University of Ottawa, Ottawa, Ontario, Canada</mods:affiliation></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><mods:affiliation>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA</mods:affiliation></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><mods:affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</mods:affiliation></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><mods:affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</mods:affiliation></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><mods:affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</mods:affiliation></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><mods:affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:8BF7AF73D0946E92F0CDF290EDB748ABAF15D904</idno><date when="2011" year="2011">2011</date><idno type="doi">10.1002/mds.23934</idno><idno type="url">https://api.istex.fr/document/8BF7AF73D0946E92F0CDF290EDB748ABAF15D904/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">000D71</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Association of SNCA 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><mods:affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</mods:affiliation></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><mods:affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</mods:affiliation></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><mods:affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</mods:affiliation></affiliation></author><author><name sortKey="Bakshi, Rachit" sort="Bakshi, Rachit" uniqKey="Bakshi R" first="Rachit" last="Bakshi">Rachit Bakshi</name><affiliation><mods:affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</mods:affiliation></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><mods:affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</mods:affiliation></affiliation></author><author><name sortKey="Ashourian, Paymon" sort="Ashourian, Paymon" uniqKey="Ashourian P" first="Paymon" last="Ashourian">Paymon Ashourian</name><affiliation><mods:affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA</mods:affiliation></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><mods:affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</mods:affiliation></affiliation></author><author><name sortKey="Chang, Sunny" sort="Chang, Sunny" uniqKey="Chang S" first="Sunny" last="Chang">Sunny Chang</name><affiliation><mods:affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</mods:affiliation></affiliation></author><author><name sortKey="Santarlasci, Andrea" sort="Santarlasci, Andrea" uniqKey="Santarlasci A" first="Andrea" last="Santarlasci">Andrea Santarlasci</name><affiliation><mods:affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</mods:affiliation></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><mods:affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, USA</mods:affiliation></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><mods:affiliation>Translational Neurology, Biogen Idec, Inc., Cambridge, Massachusetts, USA</mods:affiliation></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><mods:affiliation>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA</mods:affiliation></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><mods:affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</mods:affiliation></affiliation></author><author><name sortKey="Wills, Anne Arie" sort="Wills, Anne Arie" uniqKey="Wills A" first="Anne-Marie" last="Wills">Anne-Marie Wills</name><affiliation><mods:affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</mods:affiliation></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><mods:affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</mods:affiliation></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><mods:affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</mods:affiliation></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><mods:affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA</mods:affiliation></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><mods:affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</mods:affiliation></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><mods:affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</mods:affiliation></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><mods:affiliation>University of Ottawa, Ottawa, Ontario, Canada</mods:affiliation></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><mods:affiliation>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA</mods:affiliation></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><mods:affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</mods:affiliation></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><mods:affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</mods:affiliation></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><mods:affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</mods:affiliation></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><mods:affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA</mods:affiliation></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>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><istex><corpusName>wiley</corpusName><author><json:item><name>Hongliu Ding MD, PhD, MPH</name><affiliations><json:string>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Alison K. Sarokhan</name><affiliations><json:string>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</json:string><json:string>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Sarah S. Roderick</name><affiliations><json:string>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</json:string><json:string>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Rachit Bakshi PhD</name><affiliations><json:string>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Nancy E. Maher MPH</name><affiliations><json:string>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</json:string><json:string>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Paymon Ashourian</name><affiliations><json:string>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</json:string><json:string>Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Caroline G. Kan</name><affiliations><json:string>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</json:string><json:string>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Sunny Chang</name><affiliations><json:string>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</json:string><json:string>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Andrea Santarlasci</name><affiliations><json:string>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</json:string><json:string>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Kyleen E. Swords</name><affiliations><json:string>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</json:string><json:string>Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Bernard M. Ravina MD</name><affiliations><json:string>Translational Neurology, Biogen Idec, Inc., Cambridge, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Michael T. Hayes MD</name><affiliations><json:string>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>U. Shivraj Sohur MD, PhD</name><affiliations><json:string>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Anne‐Marie Wills MD</name><affiliations><json:string>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Alice W. Flaherty MD, PhD</name><affiliations><json:string>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Vivek K. Unni MD, PhD</name><affiliations><json:string>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Albert Y. Hung MD, PhD</name><affiliations><json:string>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</json:string><json:string>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Dennis J. Selkoe MD</name><affiliations><json:string>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Michael A. Schwarzschild MD, PhD</name><affiliations><json:string>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Michael G. Schlossmacher MD</name><affiliations><json:string>University of Ottawa, Ottawa, Ontario, Canada</json:string></affiliations></json:item><json:item><name>Lewis R. Sudarsky MD</name><affiliations><json:string>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>John H. Growdon MD</name><affiliations><json:string>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Adrian J. Ivinson PhD</name><affiliations><json:string>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Bradley T. Hyman MD, PhD</name><affiliations><json:string>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</json:string><json:string>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Clemens R. Scherzer MD</name><affiliations><json:string>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</json:string><json:string>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</json:string><json:string>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</json:string><json:string>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Parkinson's disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>α‐synuclein</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>GATA transcription factors</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>biomarker</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genome‐wide association study</value></json:item></subject><language><json:string>eng</json:string></language><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</abstract><qualityIndicators><score>6.808</score><pdfVersion>1.4</pdfVersion><pdfPageSize>612 x 809.972 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>789</abstractCharCount><pdfWordCount>9270</pdfWordCount><pdfCharCount>60284</pdfCharCount><pdfPageCount>17</pdfPageCount><abstractWordCount>109</abstractWordCount></qualityIndicators><title>Association of SNCA with Parkinson: Replication in the Harvard NeuroDiscovery Center Biomarker Study</title><genre><json:string>Serial article</json:string></genre><host><volume>26</volume><pages><total>4</total><last>2286</last><first>2283</first></pages><issn><json:string>0885-3185</json:string></issn><issue>12</issue><subject><json:item><value>Brief Report</value></json:item></subject><genre></genre><language><json:string>unknown</json:string></language><title>Movement Disorders</title><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi></host><publicationDate>2011</publicationDate><copyrightDate>2011</copyrightDate><doi><json:string>10.1002/mds.23934</json:string></doi><id>8BF7AF73D0946E92F0CDF290EDB748ABAF15D904</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/8BF7AF73D0946E92F0CDF290EDB748ABAF15D904/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/8BF7AF73D0946E92F0CDF290EDB748ABAF15D904/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/8BF7AF73D0946E92F0CDF290EDB748ABAF15D904/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Association of SNCA with Parkinson: Replication in the Harvard NeuroDiscovery Center Biomarker Study</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>Wiley Subscription Services, Inc., A Wiley Company</p></availability><date>2011</date></publicationStmt><notesStmt><note type="content">*Funding agencies: This study was funded by NIH grants R01 NS064155 (to C.R.S.), R21 NS060227 (to C.R.S.), K24 NS060991 (to M.A.S.), the Harvard NeuroDiscovery Center (to C.R.S. and B.T.H.), the Michael J. Fox Foundation (grants to C.R.S., M.G.S., and J.H.G.), the M.E.M.O. Hoffman Foundation (to C.R.S.), and the RJG Foundation (to C.R.S.).</note><note type="content">*Relevant conflicts of interest/financial disclosures: Clemens R. Scherzer is a consultant for Link Medicine Corp and the Michael J. Fox Foundation and a scientific collaborator of DiaGenic and Pfizer. Alice W. Flaherty has a contract with Neurologix, Inc.</note><note type="content">*Full financial disclosures and author roles may be found in the online version of this article.</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Association of SNCA with Parkinson: Replication in the Harvard NeuroDiscovery Center Biomarker Study</title><author><persName><forename type="first">Hongliu</forename><surname>Ding</surname><roleName type="degree">MD, PhD, MPH</roleName></persName><affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</affiliation></author><author><persName><forename type="first">Alison K.</forename><surname>Sarokhan</surname></persName><affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</affiliation><affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</affiliation></author><author><persName><forename type="first">Sarah S.</forename><surname>Roderick</surname></persName><affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</affiliation><affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</affiliation></author><author><persName><forename type="first">Rachit</forename><surname>Bakshi</surname><roleName type="degree">PhD</roleName></persName><affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</affiliation></author><author><persName><forename type="first">Nancy E.</forename><surname>Maher</surname><roleName type="degree">MPH</roleName></persName><affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</affiliation><affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</affiliation></author><author><persName><forename type="first">Paymon</forename><surname>Ashourian</surname></persName><affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</affiliation><affiliation>Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA</affiliation></author><author><persName><forename type="first">Caroline G.</forename><surname>Kan</surname></persName><affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</affiliation><affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</affiliation></author><author><persName><forename type="first">Sunny</forename><surname>Chang</surname></persName><affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</affiliation><affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</affiliation></author><author><persName><forename type="first">Andrea</forename><surname>Santarlasci</surname></persName><affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</affiliation><affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</affiliation></author><author><persName><forename type="first">Kyleen E.</forename><surname>Swords</surname></persName><affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</affiliation><affiliation>Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, USA</affiliation></author><author><persName><forename type="first">Bernard M.</forename><surname>Ravina</surname><roleName type="degree">MD</roleName></persName><affiliation>Translational Neurology, Biogen Idec, Inc., Cambridge, Massachusetts, USA</affiliation></author><author><persName><forename type="first">Michael T.</forename><surname>Hayes</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA</affiliation></author><author><persName><forename type="first">U. Shivraj</forename><surname>Sohur</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</affiliation></author><author><persName><forename type="first">Anne‐Marie</forename><surname>Wills</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</affiliation></author><author><persName><forename type="first">Alice W.</forename><surname>Flaherty</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</affiliation></author><author><persName><forename type="first">Vivek K.</forename><surname>Unni</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</affiliation></author><author><persName><forename type="first">Albert Y.</forename><surname>Hung</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</affiliation><affiliation>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA</affiliation></author><author><persName><forename type="first">Dennis J.</forename><surname>Selkoe</surname><roleName type="degree">MD</roleName></persName><affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</affiliation></author><author><persName><forename type="first">Michael A.</forename><surname>Schwarzschild</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</affiliation></author><author><persName><forename type="first">Michael G.</forename><surname>Schlossmacher</surname><roleName type="degree">MD</roleName></persName><affiliation>University of Ottawa, Ottawa, Ontario, Canada</affiliation></author><author><persName><forename type="first">Lewis R.</forename><surname>Sudarsky</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA</affiliation></author><author><persName><forename type="first">John H.</forename><surname>Growdon</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</affiliation></author><author><persName><forename type="first">Adrian J.</forename><surname>Ivinson</surname><roleName type="degree">PhD</roleName></persName><affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</affiliation></author><author><persName><forename type="first">Bradley T.</forename><surname>Hyman</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</affiliation><affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</affiliation></author><author><persName><forename type="first">Clemens R.</forename><surname>Scherzer</surname><roleName type="degree">MD</roleName></persName><note type="correspondence"><p>Correspondence: Laboratory for Neurogenomics, Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, 65 Landsdowne Street, Suite 307A, Cambridge, MA 02139, USA</p></note><affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</affiliation><affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</affiliation><affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</affiliation><affiliation>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="pISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><idno type="DOI">10.1002/(ISSN)1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="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></monogr><idno type="istex">8BF7AF73D0946E92F0CDF290EDB748ABAF15D904</idno><idno type="DOI">10.1002/mds.23934</idno><idno type="ArticleID">MDS23934</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2011</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>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</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Parkinson's disease</term></item><item><term>α‐synuclein</term></item><item><term>GATA transcription factors</term></item><item><term>biomarker</term></item><item><term>genome‐wide association study</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Brief Report</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2011-04-06">Received</change><change when="2011-08-02">Registration</change><change when="2011-10">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/8BF7AF73D0946E92F0CDF290EDB748ABAF15D904/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="short">Mov. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="120"><doi origin="wiley" registered="yes">10.1002/mds.v26.12</doi><numberingGroup><numbering type="journalVolume" number="26">26</numbering><numbering type="journalIssue">12</numbering></numberingGroup><coverDate startDate="2011-10">October 2011</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="270" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.23934</doi><idGroup><id type="unit" value="MDS23934"></id></idGroup><countGroup><count type="pageTotal" number="4"></count></countGroup><titleGroup><title type="articleCategory">Brief Report</title><title type="tocHeading1">Brief Reports</title></titleGroup><copyright ownership="thirdParty">Copyright © 2011 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2011-04-06"></event><event type="manuscriptRevised" date="2011-07-18"></event><event type="manuscriptAccepted" date="2011-08-02"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:3.0.1 mode:FullText" date="2012-01-04"></event><event type="publishedOnlineEarlyUnpaginated" date="2011-09-23"></event><event type="publishedOnlineFinalForm" date="2011-10-21"></event><event type="firstOnline" date="2011-09-23"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-02-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-31"></event></eventGroup><numberingGroup><numbering type="pageFirst">2283</numbering><numbering type="pageLast">2286</numbering></numberingGroup><correspondenceTo>Laboratory for Neurogenomics, Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, 65 Landsdowne Street, Suite 307A, Cambridge, MA 02139, USA</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS23934.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="0"></count><count type="tableTotal" number="2"></count><count type="referenceTotal" number="7"></count><count type="wordTotal" number="4076"></count></countGroup><titleGroup><title type="main" xml:lang="en">Association of <i>SNCA</i> with Parkinson: Replication in the Harvard NeuroDiscovery Center Biomarker Study<link href="#fn1"></link><link href="#fn2"></link><link href="#fn3"></link></title><title type="short" xml:lang="en">A Common α‐Synuclein Variant and PD</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Hongliu</givenNames><familyName>Ding</familyName><degrees>MD, PhD, MPH</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Alison K.</givenNames><familyName>Sarokhan</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Sarah S.</givenNames><familyName>Roderick</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Rachit</givenNames><familyName>Bakshi</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Nancy E.</givenNames><familyName>Maher</familyName><degrees>MPH</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af1 #af3"><personName><givenNames>Paymon</givenNames><familyName>Ashourian</familyName></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Caroline G.</givenNames><familyName>Kan</familyName></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Sunny</givenNames><familyName>Chang</familyName></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af2 #af4"><personName><givenNames>Andrea</givenNames><familyName>Santarlasci</familyName></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af2 #af5"><personName><givenNames>Kyleen E.</givenNames><familyName>Swords</familyName></personName></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Bernard M.</givenNames><familyName>Ravina</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au12" creatorRole="author" affiliationRef="#af7"><personName><givenNames>Michael T.</givenNames><familyName>Hayes</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au13" creatorRole="author" affiliationRef="#af4"><personName><givenNames>U. 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J.</givenNames><familyName>Ivinson</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au24" creatorRole="author" affiliationRef="#af2 #af4"><personName><givenNames>Bradley T.</givenNames><familyName>Hyman</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au25" creatorRole="author" affiliationRef="#af1 #af2 #af4 #af7" corresponding="yes"><personName><givenNames>Clemens R.</givenNames><familyName>Scherzer</familyName><degrees>MD</degrees></personName><contactDetails><email>cscherzer@rics.bwh.harvard.edu</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="US" type="organization"><unparsedAffiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="US" type="organization"><unparsedAffiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="US" type="organization"><unparsedAffiliation>Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="US" type="organization"><unparsedAffiliation>Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, USA</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="US" type="organization"><unparsedAffiliation>Translational Neurology, Biogen Idec, Inc., Cambridge, Massachusetts, USA</unparsedAffiliation></affiliation><affiliation xml:id="af7" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA</unparsedAffiliation></affiliation><affiliation xml:id="af8" countryCode="CA" type="organization"><unparsedAffiliation>University of Ottawa, Ottawa, Ontario, Canada</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Parkinson's disease</keyword><keyword xml:id="kwd2">α‐synuclein</keyword><keyword xml:id="kwd3">GATA transcription factors</keyword><keyword xml:id="kwd4">biomarker</keyword><keyword xml:id="kwd5">genome‐wide association study</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><section xml:id="abs1-1"><title type="main">Background:</title><p>Mutations in the α‐synuclein gene (<i>SNCA</i>) 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></section><section xml:id="abs1-2"><title type="main">Methods:</title><p>We genotyped a prioritized noncoding variant in <i>SNCA</i> intron 4 in 344 patients with Parkinson's disease and 275 controls from the longitudinal Harvard NeuroDiscovery Center Biomarker Study.</p></section><section xml:id="abs1-3"><title type="main">Results:</title><p>The common minor allele of rs2736990 was associated with elevated disease susceptibility (odds ratio, 1.40; <i>P</i> = .0032).</p></section><section xml:id="abs1-4"><title type="main">Conclusions:</title><p>This result increases confidence in the notion that in many clinically well‐characterized patients, genetic variation in <i>SNCA</i> contributes to “sporadic” disease. © 2011 Movement Disorder Society</p></section></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p><b>Funding agencies:</b> This study was funded by NIH grants R01 NS064155 (to C.R.S.), R21 NS060227 (to C.R.S.), K24 NS060991 (to M.A.S.), the Harvard NeuroDiscovery Center (to C.R.S. and B.T.H.), the Michael J. Fox Foundation (grants to C.R.S., M.G.S., and J.H.G.), the M.E.M.O. Hoffman Foundation (to C.R.S.), and the RJG Foundation (to C.R.S.).</p></note><note xml:id="fn2"><p><b>Relevant conflicts of interest/financial disclosures:</b> Clemens R. Scherzer is a consultant for Link Medicine Corp and the Michael J. Fox Foundation and a scientific collaborator of DiaGenic and Pfizer. Alice W. Flaherty has a contract with Neurologix, Inc.</p></note><note xml:id="fn3"><p>Full financial disclosures and author roles may be found in the online version of this article.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Association of SNCA with Parkinson: Replication in the Harvard NeuroDiscovery Center Biomarker Study</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>A Common α‐Synuclein Variant and PD</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Association of</title></titleInfo><name type="personal"><namePart type="given">Hongliu</namePart><namePart type="family">Ding</namePart><namePart type="termsOfAddress">MD, PhD, MPH</namePart><affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alison K.</namePart><namePart type="family">Sarokhan</namePart><affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</affiliation><affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sarah S.</namePart><namePart type="family">Roderick</namePart><affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</affiliation><affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Rachit</namePart><namePart type="family">Bakshi</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nancy E.</namePart><namePart type="family">Maher</namePart><namePart type="termsOfAddress">MPH</namePart><affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</affiliation><affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Paymon</namePart><namePart type="family">Ashourian</namePart><affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</affiliation><affiliation>Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Caroline G.</namePart><namePart type="family">Kan</namePart><affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</affiliation><affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sunny</namePart><namePart type="family">Chang</namePart><affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</affiliation><affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Andrea</namePart><namePart type="family">Santarlasci</namePart><affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</affiliation><affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kyleen E.</namePart><namePart type="family">Swords</namePart><affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</affiliation><affiliation>Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Bernard M.</namePart><namePart type="family">Ravina</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Translational Neurology, Biogen Idec, Inc., Cambridge, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Michael T.</namePart><namePart type="family">Hayes</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">U. Shivraj</namePart><namePart type="family">Sohur</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Anne‐Marie</namePart><namePart type="family">Wills</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alice W.</namePart><namePart type="family">Flaherty</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Vivek K.</namePart><namePart type="family">Unni</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Albert Y.</namePart><namePart type="family">Hung</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</affiliation><affiliation>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Dennis J.</namePart><namePart type="family">Selkoe</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Michael A.</namePart><namePart type="family">Schwarzschild</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Michael G.</namePart><namePart type="family">Schlossmacher</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>University of Ottawa, Ottawa, Ontario, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Lewis R.</namePart><namePart type="family">Sudarsky</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">John H.</namePart><namePart type="family">Growdon</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Adrian J.</namePart><namePart type="family">Ivinson</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Bradley T.</namePart><namePart type="family">Hyman</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</affiliation><affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Clemens R.</namePart><namePart type="family">Scherzer</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA</affiliation><affiliation>Harvard NeuroDiscovery Center Biomarker Program, Harvard Medical School, Cambridge, Massachusetts, USA</affiliation><affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</affiliation><affiliation>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA</affiliation><description>Correspondence: Laboratory for Neurogenomics, Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, 65 Landsdowne Street, Suite 307A, Cambridge, MA 02139, USA</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2011-10</dateIssued><dateCaptured encoding="w3cdtf">2011-04-06</dateCaptured><dateValid encoding="w3cdtf">2011-08-02</dateValid><copyrightDate encoding="w3cdtf">2011</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="tables">2</extent><extent unit="references">7</extent><extent unit="words">4076</extent></physicalDescription><abstract 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</abstract><note type="content">*Funding agencies: This study was funded by NIH grants R01 NS064155 (to C.R.S.), R21 NS060227 (to C.R.S.), K24 NS060991 (to M.A.S.), the Harvard NeuroDiscovery Center (to C.R.S. and B.T.H.), the Michael J. Fox Foundation (grants to C.R.S., M.G.S., and J.H.G.), the M.E.M.O. Hoffman Foundation (to C.R.S.), and the RJG Foundation (to C.R.S.).</note><note type="content">*Relevant conflicts of interest/financial disclosures: Clemens R. Scherzer is a consultant for Link Medicine Corp and the Michael J. Fox Foundation and a scientific collaborator of DiaGenic and Pfizer. Alice W. Flaherty has a contract with Neurologix, Inc.</note><note type="content">*Full financial disclosures and author roles may be found in the online version of this article.</note><subject lang="en"><genre>Keywords</genre><topic>Parkinson's disease</topic><topic>α‐synuclein</topic><topic>GATA transcription factors</topic><topic>biomarker</topic><topic>genome‐wide association study</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><subject><genre>article category</genre><topic>Brief Report</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2011</date><detail type="volume"><caption>vol.</caption><number>26</number></detail><detail type="issue"><caption>no.</caption><number>12</number></detail><extent unit="pages"><start>2283</start><end>2286</end><total>4</total></extent></part></relatedItem><identifier type="istex">8BF7AF73D0946E92F0CDF290EDB748ABAF15D904</identifier><identifier type="DOI">10.1002/mds.23934</identifier><identifier type="ArticleID">MDS23934</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2011 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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