Movement Disorders (revue)

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

Identifieur interne : 001854 ( Main/Merge ); précédent : 001853; suivant : 001855

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

Auteurs : Hongliu Ding [États-Unis] ; Alison K. Sarokhan [États-Unis] ; Sarah S. Roderick [États-Unis] ; Rachit Bakshi [États-Unis] ; Nancy E. Maher [États-Unis] ; Paymon Ashourian [États-Unis] ; Caroline G. Kan [États-Unis] ; Sunny Chang [États-Unis] ; Andrea Santarlasci [États-Unis] ; Kyleen E. Swords [États-Unis] ; Bernard M. Ravina [États-Unis] ; Michael T. Hayes [États-Unis] ; U. Shivraj Sohur [États-Unis] ; Anne-Marie Wills [États-Unis] ; Alice W. 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 :

RBID : ISTEX:8BF7AF73D0946E92F0CDF290EDB748ABAF15D904

English descriptors

Abstract

Background:: Mutations in the α‐synuclein gene (SNCA) cause autosomal dominant forms of Parkinson's disease, but the substantial risk conferred by this locus to the common sporadic disease has only recently emerged from genome‐wide association studies. Methods:: We genotyped a prioritized noncoding variant in SNCA intron 4 in 344 patients with Parkinson's disease and 275 controls from the longitudinal Harvard NeuroDiscovery Center Biomarker Study. Results:: The common minor allele of rs2736990 was associated with elevated disease susceptibility (odds ratio, 1.40; P = .0032). Conclusions:: This result increases confidence in the notion that in many clinically well‐characterized patients, genetic variation in SNCA contributes to “sporadic” disease. © 2011 Movement Disorder Society

Url:
DOI: 10.1002/mds.23934

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ISTEX:8BF7AF73D0946E92F0CDF290EDB748ABAF15D904

Le document en format XML

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<wicri:regionArea>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series>
<title level="j">Movement Disorders</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
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<publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2011-10">2011-10</date>
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<biblScope unit="issue">12</biblScope>
<biblScope unit="page" from="2283">2283</biblScope>
<biblScope unit="page" to="2286">2286</biblScope>
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<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>
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<idno type="ISSN">0885-3185</idno>
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<term>Aged</term>
<term>Female</term>
<term>GATA transcription factors</term>
<term>Genetic Predisposition to Disease (genetics)</term>
<term>Genome-Wide Association Study</term>
<term>Humans</term>
<term>Introns (genetics)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson's disease</term>
<term>Polymorphism, Single Nucleotide (genetics)</term>
<term>alpha-Synuclein (genetics)</term>
<term>biomarker</term>
<term>genome‐wide association study</term>
<term>α‐synuclein</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en">
<term>alpha-Synuclein</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en">
<term>Genetic Predisposition to Disease</term>
<term>Introns</term>
<term>Parkinson Disease</term>
<term>Polymorphism, Single Nucleotide</term>
</keywords>
<keywords scheme="MESH" xml:lang="en">
<term>Aged</term>
<term>Female</term>
<term>Genome-Wide Association Study</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
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<front>
<div type="abstract" xml:lang="en">Background:: Mutations in the α‐synuclein gene (SNCA) cause autosomal dominant forms of Parkinson's disease, but the substantial risk conferred by this locus to the common sporadic disease has only recently emerged from genome‐wide association studies. Methods:: We genotyped a prioritized noncoding variant in SNCA intron 4 in 344 patients with Parkinson's disease and 275 controls from the longitudinal Harvard NeuroDiscovery Center Biomarker Study. Results:: The common minor allele of rs2736990 was associated with elevated disease susceptibility (odds ratio, 1.40; P = .0032). Conclusions:: This result increases confidence in the notion that in many clinically well‐characterized patients, genetic variation in SNCA contributes to “sporadic” disease. © 2011 Movement Disorder Society</div>
</front>
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<double doi="10.1002/mds.23934">
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<title xml:lang="en">Association of SNCA with Parkinson: Replication in the Harvard NeuroDiscovery Center Biomarker Study</title>
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<name sortKey="Ding, Hongliu" sort="Ding, Hongliu" uniqKey="Ding H" first="Hongliu" last="Ding">Hongliu Ding</name>
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<author>
<name sortKey="Sarokhan, Alison K" sort="Sarokhan, Alison K" uniqKey="Sarokhan A" first="Alison K." last="Sarokhan">Alison K. Sarokhan</name>
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<name sortKey="Roderick, Sarah S" sort="Roderick, Sarah S" uniqKey="Roderick S" first="Sarah S." last="Roderick">Sarah S. Roderick</name>
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<name sortKey="Bakshi, Rachit" sort="Bakshi, Rachit" uniqKey="Bakshi R" first="Rachit" last="Bakshi">Rachit Bakshi</name>
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<name sortKey="Maher, Nancy E" sort="Maher, Nancy E" uniqKey="Maher N" first="Nancy E." last="Maher">Nancy E. Maher</name>
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<name sortKey="Ashourian, Paymon" sort="Ashourian, Paymon" uniqKey="Ashourian P" first="Paymon" last="Ashourian">Paymon Ashourian</name>
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<name sortKey="Kan, Caroline G" sort="Kan, Caroline G" uniqKey="Kan C" first="Caroline G." last="Kan">Caroline G. Kan</name>
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<name sortKey="Chang, Sunny" sort="Chang, Sunny" uniqKey="Chang S" first="Sunny" last="Chang">Sunny Chang</name>
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<name sortKey="Santarlasci, Andrea" sort="Santarlasci, Andrea" uniqKey="Santarlasci A" first="Andrea" last="Santarlasci">Andrea Santarlasci</name>
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<name sortKey="Swords, Kyleen E" sort="Swords, Kyleen E" uniqKey="Swords K" first="Kyleen E." last="Swords">Kyleen E. Swords</name>
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<name sortKey="Hung, Albert Y" sort="Hung, Albert Y" uniqKey="Hung A" first="Albert Y." last="Hung">Albert Y. Hung</name>
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<name sortKey="Schwarzschild, Michael A" sort="Schwarzschild, Michael A" uniqKey="Schwarzschild M" first="Michael A." last="Schwarzschild">Michael A. Schwarzschild</name>
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<name sortKey="Schlossmacher, Michael G" sort="Schlossmacher, Michael G" uniqKey="Schlossmacher M" first="Michael G." last="Schlossmacher">Michael G. Schlossmacher</name>
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<name sortKey="Sudarsky, Lewis R" sort="Sudarsky, Lewis R" uniqKey="Sudarsky L" first="Lewis R." last="Sudarsky">Lewis R. Sudarsky</name>
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<name sortKey="Hyman, Bradley T" sort="Hyman, Bradley T" uniqKey="Hyman B" first="Bradley T." last="Hyman">Bradley T. Hyman</name>
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<name sortKey="Scherzer, Clemens R" sort="Scherzer, Clemens R" uniqKey="Scherzer C" first="Clemens R." last="Scherzer">Clemens R. Scherzer</name>
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<name sortKey="Roderick, Sarah S" sort="Roderick, Sarah S" uniqKey="Roderick S" first="Sarah S." last="Roderick">Sarah S. Roderick</name>
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<wicri:regionArea>Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, Massachusetts</wicri:regionArea>
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<region type="state">Massachusetts</region>
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<name sortKey="Kan, Caroline G" sort="Kan, Caroline G" uniqKey="Kan C" first="Caroline G." last="Kan">Caroline G. Kan</name>
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<wicri:regionArea>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts</wicri:regionArea>
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<wicri:regionArea>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts</wicri:regionArea>
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<name sortKey="Santarlasci, Andrea" sort="Santarlasci, Andrea" uniqKey="Santarlasci A" first="Andrea" last="Santarlasci">Andrea Santarlasci</name>
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<region type="state">Massachusetts</region>
</placeName>
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<affiliation wicri:level="2">
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<wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
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<region type="state">Massachusetts</region>
</placeName>
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<name sortKey="Swords, Kyleen E" sort="Swords, Kyleen E" uniqKey="Swords K" first="Kyleen E." last="Swords">Kyleen E. Swords</name>
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<name sortKey="Ravina, Bernard M" sort="Ravina, Bernard M" uniqKey="Ravina B" first="Bernard M." last="Ravina">Bernard M. Ravina</name>
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<wicri:regionArea>Translational Neurology, Biogen Idec, Inc., Cambridge, Massachusetts</wicri:regionArea>
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<country xml:lang="fr">États-Unis</country>
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<region type="state">Massachusetts</region>
</placeName>
</affiliation>
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<region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Flaherty, Alice W" sort="Flaherty, Alice W" uniqKey="Flaherty A" first="Alice W." last="Flaherty">Alice W. Flaherty</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
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<region type="state">Massachusetts</region>
</placeName>
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<name sortKey="Unni, Vivek K" sort="Unni, Vivek K" uniqKey="Unni V" first="Vivek K." last="Unni">Vivek K. Unni</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
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</placeName>
</affiliation>
</author>
<author>
<name sortKey="Schlossmacher, Michael G" sort="Schlossmacher, Michael G" uniqKey="Schlossmacher M" first="Michael G." last="Schlossmacher">Michael G. Schlossmacher</name>
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<author>
<name sortKey="Growdon, John H" sort="Growdon, John H" uniqKey="Growdon J" first="John H." last="Growdon">John H. Growdon</name>
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<wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
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<name sortKey="Ivinson, Adrian J" sort="Ivinson, Adrian J" uniqKey="Ivinson A" first="Adrian J." last="Ivinson">Adrian J. Ivinson</name>
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</placeName>
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<author>
<name sortKey="Scherzer, Clemens R" sort="Scherzer, Clemens R" uniqKey="Scherzer C" first="Clemens R." last="Scherzer">Clemens R. Scherzer</name>
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<wicri:regionArea>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts</wicri:regionArea>
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<wicri:regionArea>Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts</wicri:regionArea>
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<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>
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<idno type="ISSN">0885-3185</idno>
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<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>
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<language ident="en">en</language>
</langUsage>
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<front>
<div type="abstract" xml:lang="en">Background:: Mutations in the α‐synuclein gene (SNCA) cause autosomal dominant forms of Parkinson's disease, but the substantial risk conferred by this locus to the common sporadic disease has only recently emerged from genome‐wide association studies. Methods:: We genotyped a prioritized noncoding variant in SNCA intron 4 in 344 patients with Parkinson's disease and 275 controls from the longitudinal Harvard NeuroDiscovery Center Biomarker Study. Results:: The common minor allele of rs2736990 was associated with elevated disease susceptibility (odds ratio, 1.40; P = .0032). Conclusions:: This result increases confidence in the notion that in many clinically well‐characterized patients, genetic variation in SNCA contributes to “sporadic” disease. © 2011 Movement Disorder Society</div>
</front>
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<title xml:lang="en">Association of
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<name sortKey="Ding, Hongliu" sort="Ding, Hongliu" uniqKey="Ding H" first="Hongliu" last="Ding">Hongliu Ding</name>
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<nlm:aff id="A1">Center for Neurologic Diseases, Harvard Medical School and Brigham & Women’s Hospital, Boston, MA 02115, USA</nlm:aff>
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<name sortKey="Swords, Kyleen E" sort="Swords, Kyleen E" uniqKey="Swords K" first="Kyleen E." last="Swords">Kyleen E. Swords</name>
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<nlm:aff id="A4">Department of Neurology, Brigham and Women’s Hospital, Boston, MA 02115, USA</nlm:aff>
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<name sortKey="Flaherty, Alice W" sort="Flaherty, Alice W" uniqKey="Flaherty A" first="Alice W." last="Flaherty">Alice W. Flaherty</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea>
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<name sortKey="Schwarzschild, Michael A" sort="Schwarzschild, Michael A" uniqKey="Schwarzschild M" first="Michael A." last="Schwarzschild">Michael A. Schwarzschild</name>
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<author>
<name sortKey="Ding, Hongliu" sort="Ding, Hongliu" uniqKey="Ding H" first="Hongliu" last="Ding">Hongliu Ding</name>
<affiliation wicri:level="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</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="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</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="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Bakshi, Rachit" sort="Bakshi, Rachit" uniqKey="Bakshi R" first="Rachit" last="Bakshi">Rachit Bakshi</name>
<affiliation wicri:level="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</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="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Ashourian, Paymon" sort="Ashourian, Paymon" uniqKey="Ashourian P" first="Paymon" last="Ashourian">Paymon Ashourian</name>
<affiliation wicri:level="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</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="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Chang, Sunny" sort="Chang, Sunny" uniqKey="Chang S" first="Sunny" last="Chang">Sunny Chang</name>
<affiliation wicri:level="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Santarlasci, Andrea" sort="Santarlasci, Andrea" uniqKey="Santarlasci A" first="Andrea" last="Santarlasci">Andrea Santarlasci</name>
<affiliation wicri:level="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</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="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Ravina, Bernard M" sort="Ravina, Bernard M" uniqKey="Ravina B" first="Bernard M." last="Ravina">Bernard M. Ravina</name>
<affiliation wicri:level="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</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="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Sohur, U Shivraj" sort="Sohur, U Shivraj" uniqKey="Sohur U" first="U. Shivraj" last="Sohur">U. Shivraj Sohur</name>
<affiliation wicri:level="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</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="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Flaherty, Alice W" sort="Flaherty, Alice W" uniqKey="Flaherty A" first="Alice W." last="Flaherty">Alice W. Flaherty</name>
<affiliation wicri:level="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</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="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</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="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Selkoe, Dennis J" sort="Selkoe, Dennis J" uniqKey="Selkoe D" first="Dennis J." last="Selkoe">Dennis J. Selkoe</name>
<affiliation wicri:level="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</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="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</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>
<wicri:noRegion>Ontario K1H 8M5</wicri:noRegion>
</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="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</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="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Ivinson, Adrian J" sort="Ivinson, Adrian J" uniqKey="Ivinson A" first="Adrian J." last="Ivinson">Adrian J. Ivinson</name>
<affiliation wicri:level="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</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="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Scherzer, Clemens R" sort="Scherzer, Clemens R" uniqKey="Scherzer C" first="Clemens R." last="Scherzer">Clemens R. Scherzer</name>
<affiliation wicri:level="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2">
<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>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</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>
<keywords scheme="KwdEn" xml:lang="en">
<term>Aged</term>
<term>Female</term>
<term>Genetic Predisposition to Disease (genetics)</term>
<term>Genome-Wide Association Study</term>
<term>Humans</term>
<term>Introns (genetics)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Parkinson Disease (genetics)</term>
<term>Polymorphism, Single Nucleotide (genetics)</term>
<term>alpha-Synuclein (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en">
<term>alpha-Synuclein</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en">
<term>Genetic Predisposition to Disease</term>
<term>Introns</term>
<term>Parkinson Disease</term>
<term>Polymorphism, Single Nucleotide</term>
</keywords>
<keywords scheme="MESH" xml:lang="en">
<term>Aged</term>
<term>Female</term>
<term>Genome-Wide Association Study</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
</keywords>
</textClass>
</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>
</double>
</record>

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