Alpha‐synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population
Identifieur interne : 001549 ( Istex/Corpus ); précédent : 001548; suivant : 001550Alpha‐synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population
Auteurs : Alex Rajput ; Carles Vilari O-Güell ; Michele L. Rajput ; Owen A. Ross ; Alexandra I. Soto-Ortolaza ; Sarah J. Lincoln ; Stephanie A. Cobb ; Michael G. Heckman ; Matthew J. Farrer ; Ali RajputSource :
- Movement Disorders [ 0885-3185 ] ; 2009-12-15.
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Abstract
Alpha‐synuclein gene (SNCA) mutations cause familial Parkinsonism but the role of SNCA variability in idiopathic Parkinson's disease (PD) remains incompletely defined. We report a study of SNCA genetic variation in 452 idiopathic PD cases and 245 controls. SNCA copy number mutations were not associated with early‐onset disease in this population. The minor allele “G” at rs356165 was associated with increased odds of PD (P = 0.013) and genetic variation in D4S3481 (Rep1) was associated with age of disease onset (P = 0.007). There was a trend toward association between variation at rs2583988 and rapid PD progression. © 2009 Movement Disorder Society
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DOI: 10.1002/mds.22795
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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="2009-12-15">2009-12-15</date><biblScope unit="vol">24</biblScope><biblScope unit="issue">16</biblScope><biblScope unit="page" from="2411">2411</biblScope><biblScope unit="page" to="2414">2414</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">6912C08AC993104A48B092A1B64FF94E91F653CA</idno><idno type="DOI">10.1002/mds.22795</idno><idno type="ArticleID">MDS22795</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Parkinson's disease</term><term>alpha‐synuclein</term><term>genetics</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Alpha‐synuclein gene (SNCA) mutations cause familial Parkinsonism but the role of SNCA variability in idiopathic Parkinson's disease (PD) remains incompletely defined. We report a study of SNCA genetic variation in 452 idiopathic PD cases and 245 controls. SNCA copy number mutations were not associated with early‐onset disease in this population. The minor allele “G” at rs356165 was associated with increased odds of PD (P = 0.013) and genetic variation in D4S3481 (Rep1) was associated with age of disease onset (P = 0.007). There was a trend toward association between variation at rs2583988 and rapid PD progression. © 2009 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Alex Rajput MD</name><affiliations><json:string>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan, Canada</json:string></affiliations></json:item><json:item><name>Carles Vilariño‐Güell PhD</name><affiliations><json:string>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Michele L. Rajput PhD</name><affiliations><json:string>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan, Canada</json:string></affiliations></json:item><json:item><name>Owen A. Ross PhD</name><affiliations><json:string>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Alexandra I. Soto‐Ortolaza BS</name><affiliations><json:string>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Sarah J. Lincoln BS</name><affiliations><json:string>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Stephanie A. Cobb BS</name><affiliations><json:string>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Michael G. Heckman MS</name><affiliations><json:string>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Matthew J. Farrer PhD</name><affiliations><json:string>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Ali Rajput MD</name><affiliations><json:string>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan, Canada</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>alpha‐synuclein</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genetics</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Alpha‐synuclein gene (SNCA) mutations cause familial Parkinsonism but the role of SNCA variability in idiopathic Parkinson's disease (PD) remains incompletely defined. We report a study of SNCA genetic variation in 452 idiopathic PD cases and 245 controls. SNCA copy number mutations were not associated with early‐onset disease in this population. The minor allele “G” at rs356165 was associated with increased odds of PD (P = 0.013) and genetic variation in D4S3481 (Rep1) was associated with age of disease onset (P = 0.007). 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Udall Center</note><note>National Institute of Neurological Disorders and Stroke - No. P50 NS40256;</note><note>New Investigator Award</note><note>Parkinson Society Canada</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Alpha‐synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population</title><author><persName><forename type="first">Alex</forename><surname>Rajput</surname><roleName type="degree">MD</roleName></persName><note type="biography">Potential Conflict of Interest: Alex Rajput received funding from a Parkinson Society Canada New Investigator award.</note><affiliation>Potential Conflict of Interest: Alex Rajput received funding from a Parkinson Society Canada New Investigator award.</affiliation><affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan, Canada</affiliation></author><author><persName><forename type="first">Carles</forename><surname>Vilariño‐Güell</surname><roleName type="degree">PhD</roleName></persName><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Michele L.</forename><surname>Rajput</surname><roleName type="degree">PhD</roleName></persName><affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan, Canada</affiliation></author><author><persName><forename type="first">Owen A.</forename><surname>Ross</surname><roleName type="degree">PhD</roleName></persName><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Alexandra I.</forename><surname>Soto‐Ortolaza</surname><roleName type="degree">BS</roleName></persName><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Sarah J.</forename><surname>Lincoln</surname><roleName type="degree">BS</roleName></persName><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Stephanie A.</forename><surname>Cobb</surname><roleName type="degree">BS</roleName></persName><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Michael G.</forename><surname>Heckman</surname><roleName type="degree">MS</roleName></persName><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Matthew J.</forename><surname>Farrer</surname><roleName type="degree">PhD</roleName></persName><note type="correspondence"><p>Correspondence: Molecular Genetics Laboratory and Core, Morris K. 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Udall Parkinson Disease Research Center of Excellence, Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS22795.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="0"></count><count type="tableTotal" number="2"></count><count type="referenceTotal" number="18"></count><count type="wordTotal" number="2867"></count></countGroup><titleGroup><title type="main" xml:lang="en">Alpha‐synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population</title><title type="short" xml:lang="en">Alpha‐Synuclein and Parkinson's Disease</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" noteRef="#fn4"><personName><givenNames>Alex</givenNames><familyName>Rajput</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Carles</givenNames><familyName>Vilariño‐Güell</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Michele L.</givenNames><familyName>Rajput</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Owen A.</givenNames><familyName>Ross</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Alexandra I.</givenNames><familyName>Soto‐Ortolaza</familyName><degrees>BS</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Sarah J.</givenNames><familyName>Lincoln</familyName><degrees>BS</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Stephanie A.</givenNames><familyName>Cobb</familyName><degrees>BS</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Michael G.</givenNames><familyName>Heckman</familyName><degrees>MS</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af2" corresponding="yes"><personName><givenNames>Matthew J.</givenNames><familyName>Farrer</familyName><degrees>PhD</degrees></personName><contactDetails><email>Farrer.Matthew@mayo.edu</email></contactDetails></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Ali</givenNames><familyName>Rajput</familyName><degrees>MD</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="CA" type="organization"><unparsedAffiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan, Canada</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="US" type="organization"><unparsedAffiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Parkinson's disease</keyword><keyword xml:id="kwd2">alpha‐synuclein</keyword><keyword xml:id="kwd3">genetics</keyword></keywordGroup><fundingInfo><fundingAgency>Morris K. Udall Center</fundingAgency></fundingInfo><fundingInfo><fundingAgency>National Institute of Neurological Disorders and Stroke</fundingAgency><fundingNumber>P50 NS40256</fundingNumber></fundingInfo><fundingInfo><fundingAgency>New Investigator Award</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Parkinson Society Canada</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Alpha‐synuclein gene (<i>SNCA</i>) mutations cause familial Parkinsonism but the role of <i>SNCA</i> variability in idiopathic Parkinson's disease (PD) remains incompletely defined. We report a study of <i>SNCA</i> genetic variation in 452 idiopathic PD cases and 245 controls. <i>SNCA</i> copy number mutations were not associated with early‐onset disease in this population. The minor allele “G” at rs356165 was associated with increased odds of PD (<i>P</i> = 0.013) and genetic variation in D4S3481 (Rep1) was associated with age of disease onset (<i>P</i> = 0.007). There was a trend toward association between variation at rs2583988 and rapid PD progression. © 2009 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn4"><p>Potential Conflict of Interest: Alex Rajput received funding from a Parkinson Society Canada New Investigator award.</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>Alpha‐synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Alpha‐Synuclein and Parkinson's Disease</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Alpha‐synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population</title></titleInfo><name type="personal"><namePart type="given">Alex</namePart><namePart type="family">Rajput</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan, Canada</affiliation><description>Potential Conflict of Interest: Alex Rajput received funding from a Parkinson Society Canada New Investigator award.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Carles</namePart><namePart type="family">Vilariño‐Güell</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Michele L.</namePart><namePart type="family">Rajput</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Owen A.</namePart><namePart type="family">Ross</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alexandra I.</namePart><namePart type="family">Soto‐Ortolaza</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sarah J.</namePart><namePart type="family">Lincoln</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Stephanie A.</namePart><namePart type="family">Cobb</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Michael G.</namePart><namePart type="family">Heckman</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Matthew J.</namePart><namePart type="family">Farrer</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation><description>Correspondence: Molecular Genetics Laboratory and Core, Morris K. Udall Parkinson Disease Research Center of Excellence, Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ali</namePart><namePart type="family">Rajput</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan, Canada</affiliation><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">2009-12-15</dateIssued><dateCaptured encoding="w3cdtf">2009-05-15</dateCaptured><dateValid encoding="w3cdtf">2009-08-20</dateValid><copyrightDate encoding="w3cdtf">2009</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">18</extent><extent unit="words">2867</extent></physicalDescription><abstract lang="en">Alpha‐synuclein gene (SNCA) mutations cause familial Parkinsonism but the role of SNCA variability in idiopathic Parkinson's disease (PD) remains incompletely defined. We report a study of SNCA genetic variation in 452 idiopathic PD cases and 245 controls. SNCA copy number mutations were not associated with early‐onset disease in this population. The minor allele “G” at rs356165 was associated with increased odds of PD (P = 0.013) and genetic variation in D4S3481 (Rep1) was associated with age of disease onset (P = 0.007). There was a trend toward association between variation at rs2583988 and rapid PD progression. © 2009 Movement Disorder Society</abstract><note type="funding">Morris K. Udall Center</note><note type="funding">National Institute of Neurological Disorders and Stroke - No. P50 NS40256; </note><note type="funding">New Investigator Award</note><note type="funding">Parkinson Society Canada</note><subject lang="en"><genre>Keywords</genre><topic>Parkinson's disease</topic><topic>alpha‐synuclein</topic><topic>genetics</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>2009</date><detail type="volume"><caption>vol.</caption><number>24</number></detail><detail type="issue"><caption>no.</caption><number>16</number></detail><extent unit="pages"><start>2411</start><end>2414</end><total>4</total></extent></part></relatedItem><identifier type="istex">6912C08AC993104A48B092A1B64FF94E91F653CA</identifier><identifier type="DOI">10.1002/mds.22795</identifier><identifier type="ArticleID">MDS22795</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2009 Movement Disorders 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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