Association of SNCA with Parkinson: replication in the Harvard NeuroDiscovery Center Biomarker Study.
Identifieur interne : 001026 ( PubMed/Curation ); précédent : 001025; suivant : 001027Association of SNCA with Parkinson: replication in the Harvard NeuroDiscovery Center Biomarker Study.
Auteurs : Hongliu Ding [États-Unis] ; 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 : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2011.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : alpha-Synuclein.
- genetics : Genetic Predisposition to Disease, Introns, Parkinson Disease, Polymorphism, Single Nucleotide.
- Aged, Female, Genome-Wide Association Study, Humans, Male, Middle Aged.
Abstract
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.
DOI: 10.1002/mds.23934
PubMed: 21953863
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pubmed:21953863Le document en format XML
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Hyman</name></author><author><name sortKey="Scherzer, Clemens R" sort="Scherzer, Clemens R" uniqKey="Scherzer C" first="Clemens R" last="Scherzer">Clemens R. Scherzer</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2011">2011</date><idno type="doi">10.1002/mds.23934</idno><idno type="RBID">pubmed:21953863</idno><idno type="pmid">21953863</idno><idno type="wicri:Area/PubMed/Corpus">001026</idno><idno type="wicri:Area/PubMed/Curation">001026</idno></publicationStmt><sourceDesc><biblStruct><analytic><title 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 wicri:level="1"><nlm:affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts</wicri:regionArea></affiliation></author><author><name sortKey="Sarokhan, Alison K" sort="Sarokhan, Alison K" uniqKey="Sarokhan A" first="Alison K" last="Sarokhan">Alison K. Sarokhan</name></author><author><name sortKey="Roderick, Sarah S" sort="Roderick, Sarah S" uniqKey="Roderick S" first="Sarah S" last="Roderick">Sarah S. Roderick</name></author><author><name sortKey="Bakshi, Rachit" sort="Bakshi, Rachit" uniqKey="Bakshi R" first="Rachit" last="Bakshi">Rachit Bakshi</name></author><author><name sortKey="Maher, Nancy E" sort="Maher, Nancy E" uniqKey="Maher N" first="Nancy E" last="Maher">Nancy E. Maher</name></author><author><name sortKey="Ashourian, Paymon" sort="Ashourian, Paymon" uniqKey="Ashourian P" first="Paymon" last="Ashourian">Paymon Ashourian</name></author><author><name sortKey="Kan, Caroline G" sort="Kan, Caroline G" uniqKey="Kan C" first="Caroline G" last="Kan">Caroline G. Kan</name></author><author><name sortKey="Chang, Sunny" sort="Chang, Sunny" uniqKey="Chang S" first="Sunny" last="Chang">Sunny Chang</name></author><author><name sortKey="Santarlasci, Andrea" sort="Santarlasci, Andrea" uniqKey="Santarlasci A" first="Andrea" last="Santarlasci">Andrea Santarlasci</name></author><author><name sortKey="Swords, Kyleen E" sort="Swords, Kyleen E" uniqKey="Swords K" first="Kyleen E" last="Swords">Kyleen E. Swords</name></author><author><name sortKey="Ravina, Bernard M" sort="Ravina, Bernard M" uniqKey="Ravina B" first="Bernard M" last="Ravina">Bernard M. Ravina</name></author><author><name sortKey="Hayes, Michael T" sort="Hayes, Michael T" uniqKey="Hayes M" first="Michael T" last="Hayes">Michael T. Hayes</name></author><author><name sortKey="Sohur, U Shivraj" sort="Sohur, U Shivraj" uniqKey="Sohur U" first="U Shivraj" last="Sohur">U Shivraj Sohur</name></author><author><name sortKey="Wills, Anne Marie" sort="Wills, Anne Marie" uniqKey="Wills A" first="Anne-Marie" last="Wills">Anne-Marie Wills</name></author><author><name sortKey="Flaherty, Alice W" sort="Flaherty, Alice W" uniqKey="Flaherty A" first="Alice W" last="Flaherty">Alice W. Flaherty</name></author><author><name sortKey="Unni, Vivek K" sort="Unni, Vivek K" uniqKey="Unni V" first="Vivek K" last="Unni">Vivek K. Unni</name></author><author><name sortKey="Hung, Albert Y" sort="Hung, Albert Y" uniqKey="Hung A" first="Albert Y" last="Hung">Albert Y. Hung</name></author><author><name sortKey="Selkoe, Dennis J" sort="Selkoe, Dennis J" uniqKey="Selkoe D" first="Dennis J" last="Selkoe">Dennis J. Selkoe</name></author><author><name sortKey="Schwarzschild, Michael A" sort="Schwarzschild, Michael A" uniqKey="Schwarzschild M" first="Michael A" last="Schwarzschild">Michael A. Schwarzschild</name></author><author><name sortKey="Schlossmacher, Michael G" sort="Schlossmacher, Michael G" uniqKey="Schlossmacher M" first="Michael G" last="Schlossmacher">Michael G. Schlossmacher</name></author><author><name sortKey="Sudarsky, Lewis R" sort="Sudarsky, Lewis R" uniqKey="Sudarsky L" first="Lewis R" last="Sudarsky">Lewis R. Sudarsky</name></author><author><name sortKey="Growdon, John H" sort="Growdon, John H" uniqKey="Growdon J" first="John H" last="Growdon">John H. Growdon</name></author><author><name sortKey="Ivinson, Adrian J" sort="Ivinson, Adrian J" uniqKey="Ivinson A" first="Adrian J" last="Ivinson">Adrian J. Ivinson</name></author><author><name sortKey="Hyman, Bradley T" sort="Hyman, Bradley T" uniqKey="Hyman B" first="Bradley T" last="Hyman">Bradley T. Hyman</name></author><author><name sortKey="Scherzer, Clemens R" sort="Scherzer, Clemens R" uniqKey="Scherzer C" first="Clemens R" last="Scherzer">Clemens R. Scherzer</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2011" type="published">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">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.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">21953863</PMID><DateCreated><Year>2011</Year><Month>10</Month><Day>24</Day></DateCreated><DateCompleted><Year>2012</Year><Month>03</Month><Day>05</Day></DateCompleted><DateRevised><Year>2014</Year><Month>10</Month><Day>22</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>26</Volume><Issue>12</Issue><PubDate><Year>2011</Year><Month>Oct</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Association of SNCA with Parkinson: replication in the Harvard NeuroDiscovery Center Biomarker Study.</ArticleTitle><Pagination><MedlinePgn>2283-6</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.23934</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="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.</AbstractText><AbstractText Label="METHODS" NlmCategory="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.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">The common minor allele of rs2736990 was associated with elevated disease susceptibility (odds ratio, 1.40; P = .0032).</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">This result increases confidence in the notion that in many clinically well-characterized patients, genetic variation in SNCA contributes to "sporadic" disease.</AbstractText><CopyrightInformation>Copyright © 2011 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Ding</LastName><ForeName>Hongliu</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sarokhan</LastName><ForeName>Alison K</ForeName><Initials>AK</Initials></Author><Author ValidYN="Y"><LastName>Roderick</LastName><ForeName>Sarah S</ForeName><Initials>SS</Initials></Author><Author ValidYN="Y"><LastName>Bakshi</LastName><ForeName>Rachit</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Maher</LastName><ForeName>Nancy E</ForeName><Initials>NE</Initials></Author><Author ValidYN="Y"><LastName>Ashourian</LastName><ForeName>Paymon</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Kan</LastName><ForeName>Caroline G</ForeName><Initials>CG</Initials></Author><Author ValidYN="Y"><LastName>Chang</LastName><ForeName>Sunny</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Santarlasci</LastName><ForeName>Andrea</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Swords</LastName><ForeName>Kyleen E</ForeName><Initials>KE</Initials></Author><Author ValidYN="Y"><LastName>Ravina</LastName><ForeName>Bernard M</ForeName><Initials>BM</Initials></Author><Author ValidYN="Y"><LastName>Hayes</LastName><ForeName>Michael T</ForeName><Initials>MT</Initials></Author><Author ValidYN="Y"><LastName>Sohur</LastName><ForeName>U Shivraj</ForeName><Initials>US</Initials></Author><Author ValidYN="Y"><LastName>Wills</LastName><ForeName>Anne-Marie</ForeName><Initials>AM</Initials></Author><Author ValidYN="Y"><LastName>Flaherty</LastName><ForeName>Alice W</ForeName><Initials>AW</Initials></Author><Author ValidYN="Y"><LastName>Unni</LastName><ForeName>Vivek K</ForeName><Initials>VK</Initials></Author><Author ValidYN="Y"><LastName>Hung</LastName><ForeName>Albert Y</ForeName><Initials>AY</Initials></Author><Author ValidYN="Y"><LastName>Selkoe</LastName><ForeName>Dennis J</ForeName><Initials>DJ</Initials></Author><Author ValidYN="Y"><LastName>Schwarzschild</LastName><ForeName>Michael A</ForeName><Initials>MA</Initials></Author><Author ValidYN="Y"><LastName>Schlossmacher</LastName><ForeName>Michael G</ForeName><Initials>MG</Initials></Author><Author ValidYN="Y"><LastName>Sudarsky</LastName><ForeName>Lewis R</ForeName><Initials>LR</Initials></Author><Author ValidYN="Y"><LastName>Growdon</LastName><ForeName>John H</ForeName><Initials>JH</Initials></Author><Author ValidYN="Y"><LastName>Ivinson</LastName><ForeName>Adrian J</ForeName><Initials>AJ</Initials></Author><Author ValidYN="Y"><LastName>Hyman</LastName><ForeName>Bradley T</ForeName><Initials>BT</Initials></Author><Author ValidYN="Y"><LastName>Scherzer</LastName><ForeName>Clemens R</ForeName><Initials>CR</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>K08 NS069625</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>K24 NS060991</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>K24 NS060991</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>K24 NS060991-05</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R01 NS064155</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R01 NS064155</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R01 NS064155-01</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R01 NS064155-02S1</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R21 NS060227</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R21 NS060227</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R21 NS060227-01</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2011</Year><Month>09</Month><Day>23</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D051844">alpha-Synuclein</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Hum Mol Genet. 2001 Dec 15;10(26):3101-9</RefSource><PMID Version="1">11751692</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Brain. 2002 Apr;125(Pt 4):861-70</RefSource><PMID Version="1">11912118</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Science. 2003 Oct 31;302(5646):841</RefSource><PMID Version="1">14593171</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Sci Transl Med. 2010 Oct 6;2(52):52ra73</RefSource><PMID Version="1">20926834</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10907-12</RefSource><PMID Version="1">18669654</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2009 Dec;41(12):1308-12</RefSource><PMID Version="1">19915575</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Ann Neurol. 2005 Apr;57(4):535-41</RefSource><PMID Version="1">15786467</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" 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UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020641">Polymorphism, Single Nucleotide</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D051844">alpha-Synuclein</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList><OtherID Source="NLM">NIHMS316099</OtherID><OtherID Source="NLM">PMC3337217</OtherID></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2011</Year><Month>4</Month><Day>6</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2011</Year><Month>7</Month><Day>18</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2011</Year><Month>8</Month><Day>2</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2011</Year><Month>9</Month><Day>23</Day></PubMedPubDate><PubMedPubDate 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