LRRK2 variation and Parkinson's disease in African Americans
Identifieur interne : 000220 ( Istex/Corpus ); précédent : 000219; suivant : 000221LRRK2 variation and Parkinson's disease in African Americans
Auteurs : Owen A. Ross ; Greggory J. Wilhoite ; Justin A. Bacon ; Alexandra Soto-Ortolaza ; Jennifer Kachergus ; Stephanie A. Cobb ; Andreas Puschmann ; Carles Vilari O-Güell ; Matthew J. Farrer ; Neill Graff-Radford ; James F. Meschia ; Zbigniew K. WszolekSource :
- Movement Disorders [ 0885-3185 ] ; 2010-09-15.
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Abstract
The global impact of LRRK2 mutations is yet to be realized with a lack of studies in specific ethnic groups, including those of Asian and African descent. Herein, we investigated the frequency of common LRRK2 variants by complete exon sequencing in a series of publicly available African American Parkinson's disease patients. Our study identified three novel synonymous exonic variants and 13 known coding variations; however, there did not appear to be any frequent (>5%) pathogenic mutations. Given the ethnic‐specific LRRK2 variation previously identified in PD further studies in under‐represented populations are warranted. © 2010 Movement Disorder Society.
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DOI: 10.1002/mds.23163
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Herein, we investigated the frequency of common LRRK2 variants by complete exon sequencing in a series of publicly available African American Parkinson's disease patients. Our study identified three novel synonymous exonic variants and 13 known coding variations; however, there did not appear to be any frequent (>5%) pathogenic mutations. Given the ethnic‐specific LRRK2 variation previously identified in PD further studies in under‐represented populations are warranted. © 2010 Movement Disorder Society.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Owen A. Ross PhD</name><affiliations><json:string>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</json:string><json:string>Molecular Genetics Laboratory and Core, Department of Neuroscience, Morris K. 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Our study identified three novel synonymous exonic variants and 13 known coding variations; however, there did not appear to be any frequent (>5%) pathogenic mutations. 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Fox foundation</note><note>NIH - No. P01 AG017216; No. R01 NS057567; No. R01 AG015866; No. CIHR 121849; No. PARF C06‐01;</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">LRRK2 variation and Parkinson's disease in African Americans</title><author xml:id="author-1"><persName><forename type="first">Owen A.</forename><surname>Ross</surname></persName><roleName type="degree">PhD</roleName><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><affiliation>Molecular Genetics Laboratory and Core, Department of Neuroscience, Morris K. 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Herein, we investigated the frequency of common LRRK2 variants by complete exon sequencing in a series of publicly available African American Parkinson's disease patients. Our study identified three novel synonymous exonic variants and 13 known coding variations; however, there did not appear to be any frequent (>5%) pathogenic mutations. Given the ethnic‐specific LRRK2 variation previously identified in PD further studies in under‐represented populations are warranted. © 2010 Movement Disorder Society.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>keywords</head><item><term>parkinsonism</term></item><item><term>leucine‐rich repeat kinase 2</term></item><item><term>genetics</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="2009-10-13">Received</change><change when="2010-03-17">Registration</change><change when="2010-09-15">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/050B825DED95CB71E59A3A1EA7D075A512EC35B9/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. 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Udall Parkinson's Disease Research Center of Excellence, Mayo Clinic, 4500 San Pablo Road, Jacksonville, Florida 32224</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS23163.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="1"></count><count type="referenceTotal" number="14"></count><count type="wordTotal" number="2741"></count></countGroup><titleGroup><title type="main" xml:lang="en"><i>LRRK2</i> variation and Parkinson's disease in African Americans<link href="#fn2"></link></title><title type="short" xml:lang="en">LRRK2‐<fi>Parkinsonism in African Americans</fi></title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Owen A.</givenNames><familyName>Ross</familyName><degrees>PhD</degrees></personName><contactDetails><email>ross.owen@mayo.edu</email></contactDetails></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Greggory J.</givenNames><familyName>Wilhoite</familyName><degrees>BS</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Justin A.</givenNames><familyName>Bacon</familyName><degrees>BS</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Alexandra</givenNames><familyName>Soto‐Ortolaza</familyName><degrees>BS</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Jennifer</givenNames><familyName>Kachergus</familyName><degrees>BS</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Stephanie A.</givenNames><familyName>Cobb</familyName><degrees>BA</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Andreas</givenNames><familyName>Puschmann</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Carles</givenNames><familyName>Vilariño‐Güell</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Matthew J.</givenNames><familyName>Farrer</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Neill</givenNames><familyName>Graff‐Radford</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af2"><personName><givenNames>James F.</givenNames><familyName>Meschia</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au12" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Zbigniew K.</givenNames><familyName>Wszolek</familyName><degrees>MD</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="US" type="organization"><unparsedAffiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">parkinsonism</keyword><keyword xml:id="kwd2">leucine‐rich repeat kinase 2</keyword><keyword xml:id="kwd3">genetics</keyword></keywordGroup><fundingInfo><fundingAgency>The Michael J. Fox foundation</fundingAgency></fundingInfo><fundingInfo><fundingAgency>NIH</fundingAgency><fundingNumber>P01 AG017216</fundingNumber><fundingNumber>R01 NS057567</fundingNumber><fundingNumber>R01 AG015866</fundingNumber><fundingNumber>CIHR 121849</fundingNumber><fundingNumber>PARF C06‐01</fundingNumber></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>The global impact of <i>LRRK2</i> mutations is yet to be realized with a lack of studies in specific ethnic groups, including those of Asian and African descent. Herein, we investigated the frequency of common <i>LRRK2</i> variants by complete exon sequencing in a series of publicly available African American Parkinson's disease patients. Our study identified three novel synonymous exonic variants and 13 known coding variations; however, there did not appear to be any frequent (>5%) pathogenic mutations. Given the ethnic‐specific <i>LRRK2</i> variation previously identified in PD further studies in under‐represented populations are warranted. © 2010 Movement Disorder Society.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn2"><p>Potential conflict of interest: None.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>LRRK2 variation and Parkinson's disease in African Americans</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>LRRK2‐Parkinsonism in African Americans</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>LRRK2 variation and Parkinson's disease in African Americans</title></titleInfo><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 College of Medicine, Jacksonville, Florida, USA</affiliation><affiliation>Molecular Genetics Laboratory and Core, Department of Neuroscience, Morris K. Udall Parkinson's Disease Research Center of Excellence, Mayo Clinic, 4500 San Pablo Road, Jacksonville, Florida 32224</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Greggory J.</namePart><namePart type="family">Wilhoite</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Justin A.</namePart><namePart type="family">Bacon</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alexandra</namePart><namePart type="family">Soto‐Ortolaza</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jennifer</namePart><namePart type="family">Kachergus</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, 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">BA</namePart><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Andreas</namePart><namePart type="family">Puschmann</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><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 College of Medicine, 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 College of Medicine, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Neill</namePart><namePart type="family">Graff‐Radford</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">James F.</namePart><namePart type="family">Meschia</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Zbigniew K.</namePart><namePart type="family">Wszolek</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2010-09-15</dateIssued><dateCaptured encoding="w3cdtf">2009-10-13</dateCaptured><dateValid encoding="w3cdtf">2010-03-17</dateValid><copyrightDate encoding="w3cdtf">2010</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="figures">1</extent><extent unit="tables">1</extent><extent unit="references">14</extent><extent unit="words">2741</extent></physicalDescription><abstract lang="en">The global impact of LRRK2 mutations is yet to be realized with a lack of studies in specific ethnic groups, including those of Asian and African descent. Herein, we investigated the frequency of common LRRK2 variants by complete exon sequencing in a series of publicly available African American Parkinson's disease patients. Our study identified three novel synonymous exonic variants and 13 known coding variations; however, there did not appear to be any frequent (>5%) pathogenic mutations. Given the ethnic‐specific LRRK2 variation previously identified in PD further studies in under‐represented populations are warranted. © 2010 Movement Disorder Society.</abstract><note type="content">*Potential conflict of interest: None.</note><note type="funding">The Michael J. Fox foundation</note><note type="funding">NIH - No. P01 AG017216; No. R01 NS057567; No. R01 AG015866; No. CIHR 121849; No. PARF C06‐01; </note><subject lang="en"><genre>keywords</genre><topic>parkinsonism</topic><topic>leucine‐rich repeat kinase 2</topic><topic>genetics</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><genre type="journal">journal</genre><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>2010</date><detail type="volume"><caption>vol.</caption><number>25</number></detail><detail type="issue"><caption>no.</caption><number>12</number></detail><extent unit="pages"><start>1973</start><end>1976</end><total>4</total></extent></part></relatedItem><identifier type="istex">050B825DED95CB71E59A3A1EA7D075A512EC35B9</identifier><identifier type="DOI">10.1002/mds.23163</identifier><identifier type="ArticleID">MDS23163</identifier><accessCondition type="use and reproduction" contentType="copyright">Published 2010 Wiley‐Liss, Inc.</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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