Genomewide linkage study of modifiers of LRRK2‐related Parkinson's disease
Identifieur interne : 000793 ( Main/Corpus ); précédent : 000792; suivant : 000794Genomewide linkage study of modifiers of LRRK2‐related Parkinson's disease
Auteurs : Jeanne C. Latourelle ; Audrey E. Hendricks ; Nathan Pankratz ; Jemma B. Wilk ; Cheryl Halter ; William C. Nichols ; James F. Gusella ; Anita L. Destefano ; Richard H. Myers ; Tatiana ForoudSource :
- Movement Disorders [ 0885-3185 ] ; 2011-09.
English descriptors
Abstract
Mutations in the leucine‐rich repeat kinase 2 gene, located at 12q12, are the most common known genetic causes of Parkinson's disease. Studies of leucine‐rich repeat kinase 2 mutation carriers have shown incomplete and age‐dependent penetrance, and previous studies have suggested that inherited susceptibility factors may modify the penetrance of leucine‐rich repeat kinase 2 mutations. Genomewide linkage to age of onset of leucine‐rich repeat kinase 2–related Parkinson's disease was evaluated in a sample of 113 leucine‐rich repeat kinase 2 mutation carriers from 64 families using single‐nucleotide polymorphism data from the Illumina HumanCNV370 genotyping array. Association between onset age and single‐nucleotide polymorphisms under suggestive linkage peaks was also evaluated. The top logarithmic odds score for onset age (logarithmic odds score = 2.43) was in the chromosome 1q32.1 region. Moderate linkage to onset was also identified at 16q12.1 (logarithmic odds score = 1.58). Examination of single‐nucleotide polymorphism association to Parkinson's disease onset under the linkage peaks revealed no statistically significant single‐nucleotide polymorphism associations. The 2 novel genomic regions identified may harbor modifiers of leucine‐rich repeat kinase 2–related Parkinson's disease onset age or penetrance, and further study of these regions may provide important insight into leucine‐rich repeat kinase 2–related Parkinson's disease. © 2011 Movement Disorder Society
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DOI: 10.1002/mds.23781
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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="2011-09">2011-09</date><biblScope unit="volume">26</biblScope><biblScope unit="issue">11</biblScope><biblScope unit="page" from="2039">2039</biblScope><biblScope unit="page" to="2044">2044</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">5D7B285EF0E996B467B7B9CCE8372585614CE1B1</idno><idno type="DOI">10.1002/mds.23781</idno><idno type="ArticleID">MDS23781</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>leucine‐rich repeat kinase 2</term><term>linkage</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the leucine‐rich repeat kinase 2 gene, located at 12q12, are the most common known genetic causes of Parkinson's disease. Studies of leucine‐rich repeat kinase 2 mutation carriers have shown incomplete and age‐dependent penetrance, and previous studies have suggested that inherited susceptibility factors may modify the penetrance of leucine‐rich repeat kinase 2 mutations. Genomewide linkage to age of onset of leucine‐rich repeat kinase 2–related Parkinson's disease was evaluated in a sample of 113 leucine‐rich repeat kinase 2 mutation carriers from 64 families using single‐nucleotide polymorphism data from the Illumina HumanCNV370 genotyping array. Association between onset age and single‐nucleotide polymorphisms under suggestive linkage peaks was also evaluated. The top logarithmic odds score for onset age (logarithmic odds score = 2.43) was in the chromosome 1q32.1 region. Moderate linkage to onset was also identified at 16q12.1 (logarithmic odds score = 1.58). Examination of single‐nucleotide polymorphism association to Parkinson's disease onset under the linkage peaks revealed no statistically significant single‐nucleotide polymorphism associations. The 2 novel genomic regions identified may harbor modifiers of leucine‐rich repeat kinase 2–related Parkinson's disease onset age or penetrance, and further study of these regions may provide important insight into leucine‐rich repeat kinase 2–related Parkinson's disease. © 2011 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Jeanne C. Latourelle DSc</name><affiliations><json:string>Boston University School of Medicine, Boston, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Audrey E. Hendricks MS</name><affiliations><json:string>Boston University School of Public Health, Boston, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Nathan Pankratz PhD</name><affiliations><json:string>Indiana University School of Medicine, Indianapolis, Indiana, USA</json:string></affiliations></json:item><json:item><name>Jemma B. Wilk DSc</name><affiliations><json:string>Boston University School of Medicine, Boston, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Cheryl Halter MS</name><affiliations><json:string>Indiana University School of Medicine, Indianapolis, Indiana, USA</json:string></affiliations></json:item><json:item><name>William C. Nichols PhD</name><affiliations><json:string>Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, Ohio, USA</json:string></affiliations></json:item><json:item><name>James F. Gusella PhD</name><affiliations><json:string>Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Anita L. Destefano PhD</name><affiliations><json:string>Boston University School of Medicine, Boston, Massachusetts, USA</json:string><json:string>Boston University School of Public Health, Boston, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Richard H. Myers PhD</name><affiliations><json:string>Boston University School of Medicine, Boston, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Tatiana Foroud PhD,</name><affiliations><json:string>Indiana University School of Medicine, Indianapolis, Indiana, USA</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Parkinson's disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>leucine‐rich repeat kinase 2</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>linkage</value></json:item></subject><articleId><json:string>MDS23781</json:string></articleId><language><json:string>eng</json:string></language><abstract>Mutations in the leucine‐rich repeat kinase 2 gene, located at 12q12, are the most common known genetic causes of Parkinson's disease. Studies of leucine‐rich repeat kinase 2 mutation carriers have shown incomplete and age‐dependent penetrance, and previous studies have suggested that inherited susceptibility factors may modify the penetrance of leucine‐rich repeat kinase 2 mutations. Genomewide linkage to age of onset of leucine‐rich repeat kinase 2–related Parkinson's disease was evaluated in a sample of 113 leucine‐rich repeat kinase 2 mutation carriers from 64 families using single‐nucleotide polymorphism data from the Illumina HumanCNV370 genotyping array. Association between onset age and single‐nucleotide polymorphisms under suggestive linkage peaks was also evaluated. The top logarithmic odds score for onset age (logarithmic odds score = 2.43) was in the chromosome 1q32.1 region. Moderate linkage to onset was also identified at 16q12.1 (logarithmic odds score = 1.58). Examination of single‐nucleotide polymorphism association to Parkinson's disease onset under the linkage peaks revealed no statistically significant single‐nucleotide polymorphism associations. The 2 novel genomic regions identified may harbor modifiers of leucine‐rich repeat kinase 2–related Parkinson's disease onset age or penetrance, and further study of these regions may provide important insight into leucine‐rich repeat kinase 2–related Parkinson's disease. © 2011 Movement Disorder Society</abstract><qualityIndicators><score>5.941</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>3</keywordCount><abstractCharCount>1490</abstractCharCount><pdfWordCount>3517</pdfWordCount><pdfCharCount>24619</pdfCharCount><pdfPageCount>6</pdfPageCount><abstractWordCount>202</abstractWordCount></qualityIndicators><title>Genomewide linkage study of modifiers of LRRK2‐related Parkinson's disease</title><corporate><json:item><name>and the PSG–Progeni GenePD Investigators, Coordinators, and Molecular Genetic Laboratories</name></json:item></corporate><genre><json:string>article</json:string></genre><host><volume>26</volume><publisherId><json:string>MDS</json:string></publisherId><pages><total>6</total><last>2044</last><first>2039</first></pages><issn><json:string>0885-3185</json:string></issn><issue>11</issue><subject><json:item><value>Research Article</value></json:item></subject><genre><json:string>Journal</json:string></genre><language><json:string>unknown</json:string></language><eissn><json:string>1531-8257</json:string></eissn><title>Movement Disorders</title><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi></host><publicationDate>2011</publicationDate><copyrightDate>2011</copyrightDate><doi><json:string>10.1002/mds.23781</json:string></doi><id>5D7B285EF0E996B467B7B9CCE8372585614CE1B1</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/5D7B285EF0E996B467B7B9CCE8372585614CE1B1/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/5D7B285EF0E996B467B7B9CCE8372585614CE1B1/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/5D7B285EF0E996B467B7B9CCE8372585614CE1B1/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Genomewide linkage study of modifiers of LRRK2‐related Parkinson's disease</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>WILEY</p></availability><date>2011</date></publicationStmt><notesStmt><note type="content">*Funding agencies: This project was supported by R01 NS37167, R01 NS036711, the Robert P. & Judith N. Goldberg Foundation, the Bumpus Foundation, and the Harvard NeuroDiscovery Center. A portion of this research was conducted using the Linux Cluster for Genetic Analysis (LinGA‐II) funded by the Robert Dawson Evans Endowment of the Department of Medicine at Boston University School of Medicine, and Boston Medical Center. Genotyping services were provided by the Center for Inherited Disease Research (CIDR), fully funded through a federal contract from the National Institutes of Health to Johns Hopkins University (contract HHSN268200782096C).</note><note type="content">*Relevant conflicts of interest/financial disclosures: Nothing to report.</note><note type="content">*Full financial disclosures and author roles may be found in the online version of this article.</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Genomewide linkage study of modifiers of LRRK2‐related Parkinson's disease</title><author><orgName>and the PSG–Progeni GenePD Investigators, Coordinators, and Molecular Genetic Laboratories</orgName></author><author><persName><forename type="first">Jeanne C.</forename><surname>Latourelle</surname></persName><roleName type="degree">DSc</roleName><note type="correspondence"><p>Correspondence: Jeanne Latourelle, 72 East Concord St., B‐617, Boston, MA 02119, USA</p></note><affiliation>Boston University School of Medicine, Boston, Massachusetts, USA</affiliation></author><author><persName><forename type="first">Audrey E.</forename><surname>Hendricks</surname></persName><roleName type="degree">MS</roleName><affiliation>Boston University School of Public Health, Boston, Massachusetts, USA</affiliation></author><author><persName><forename type="first">Nathan</forename><surname>Pankratz</surname></persName><roleName type="degree">PhD</roleName><affiliation>Indiana University School of Medicine, Indianapolis, Indiana, USA</affiliation></author><author><persName><forename type="first">Jemma B.</forename><surname>Wilk</surname></persName><roleName type="degree">DSc</roleName><affiliation>Boston University School of Medicine, Boston, Massachusetts, USA</affiliation></author><author><persName><forename type="first">Cheryl</forename><surname>Halter</surname></persName><roleName type="degree">MS</roleName><affiliation>Indiana University School of Medicine, Indianapolis, Indiana, USA</affiliation></author><author><persName><forename type="first">William C.</forename><surname>Nichols</surname></persName><roleName type="degree">PhD</roleName><affiliation>Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, Ohio, USA</affiliation></author><author><persName><forename type="first">James F.</forename><surname>Gusella</surname></persName><roleName type="degree">PhD</roleName><affiliation>Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA</affiliation></author><author><persName><forename type="first">Anita L.</forename><surname>Destefano</surname></persName><roleName type="degree">PhD</roleName><affiliation>Boston University School of Medicine, Boston, Massachusetts, USA</affiliation><affiliation>Boston University School of Public Health, Boston, Massachusetts, USA</affiliation></author><author><persName><forename type="first">Richard H.</forename><surname>Myers</surname></persName><roleName type="degree">PhD</roleName><affiliation>Boston University School of Medicine, Boston, Massachusetts, USA</affiliation></author><author><persName><forename type="first">Tatiana</forename><surname>Foroud</surname></persName><roleName type="degree">PhD,</roleName><affiliation>Indiana University School of Medicine, Indianapolis, Indiana, USA</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. 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Studies of leucine‐rich repeat kinase 2 mutation carriers have shown incomplete and age‐dependent penetrance, and previous studies have suggested that inherited susceptibility factors may modify the penetrance of leucine‐rich repeat kinase 2 mutations. Genomewide linkage to age of onset of leucine‐rich repeat kinase 2–related Parkinson's disease was evaluated in a sample of 113 leucine‐rich repeat kinase 2 mutation carriers from 64 families using single‐nucleotide polymorphism data from the Illumina HumanCNV370 genotyping array. Association between onset age and single‐nucleotide polymorphisms under suggestive linkage peaks was also evaluated. The top logarithmic odds score for onset age (logarithmic odds score = 2.43) was in the chromosome 1q32.1 region. Moderate linkage to onset was also identified at 16q12.1 (logarithmic odds score = 1.58). Examination of single‐nucleotide polymorphism association to Parkinson's disease onset under the linkage peaks revealed no statistically significant single‐nucleotide polymorphism associations. The 2 novel genomic regions identified may harbor modifiers of leucine‐rich repeat kinase 2–related Parkinson's disease onset age or penetrance, and further study of these regions may provide important insight into leucine‐rich repeat kinase 2–related Parkinson's disease. © 2011 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Parkinson's disease</term></item><item><term>leucine‐rich repeat kinase 2</term></item><item><term>linkage</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>article category</head><item><term>Research Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2011-02-16">Received</change><change when="2011-04-11">Registration</change><change when="2011-09">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/5D7B285EF0E996B467B7B9CCE8372585614CE1B1/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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number="1"></count><count type="tableTotal" number="4"></count><count type="referenceTotal" number="35"></count><count type="wordTotal" number="6953"></count></countGroup><titleGroup><title type="main" xml:lang="en">Genomewide linkage study of modifiers of <i>LRRK2</i>‐related Parkinson's disease<link href="#fn1"></link><link href="#fn2"></link><link href="#fn3"></link></title><title type="short" xml:lang="en">Linkage Study of <fi>LRRK2</fi>‐Related PD</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Jeanne C.</givenNames><familyName>Latourelle</familyName><degrees>DSc</degrees></personName><contactDetails><email>jlatoure@bu.edu</email></contactDetails></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Audrey E.</givenNames><familyName>Hendricks</familyName><degrees>MS</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Nathan</givenNames><familyName>Pankratz</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Jemma B.</givenNames><familyName>Wilk</familyName><degrees>DSc</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Cheryl</givenNames><familyName>Halter</familyName><degrees>MS</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af4"><personName><givenNames>William C.</givenNames><familyName>Nichols</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af5"><personName><givenNames>James F.</givenNames><familyName>Gusella</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Anita L.</givenNames><familyName>Destefano</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Richard H.</givenNames><familyName>Myers</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Tatiana</givenNames><familyName>Foroud</familyName><degrees>PhD,</degrees></personName></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af3"><groupName>and the PSG–Progeni GenePD Investigators, Coordinators, and Molecular Genetic Laboratories</groupName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="US" type="organization"><unparsedAffiliation>Boston University School of Medicine, Boston, Massachusetts, USA</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="US" type="organization"><unparsedAffiliation>Boston University School of Public Health, Boston, Massachusetts, USA</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="US" type="organization"><unparsedAffiliation>Indiana University School of Medicine, Indianapolis, Indiana, USA</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="US" type="organization"><unparsedAffiliation>Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, Ohio, USA</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="US" type="organization"><unparsedAffiliation>Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Parkinson's disease</keyword><keyword xml:id="kwd2">leucine‐rich repeat kinase 2</keyword><keyword xml:id="kwd3">linkage</keyword></keywordGroup><supportingInformation><p> Additional Supporting Information may be found in the online version of this article. </p><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23781:MDS_23781_sm_suppinfotab1"></mediaResource><caption>Supporting Information Table S1</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Mutations in the leucine‐rich repeat kinase 2 gene, located at 12q12, are the most common known genetic causes of Parkinson's disease. Studies of leucine‐rich repeat kinase 2 mutation carriers have shown incomplete and age‐dependent penetrance, and previous studies have suggested that inherited susceptibility factors may modify the penetrance of leucine‐rich repeat kinase 2 mutations. Genomewide linkage to age of onset of leucine‐rich repeat kinase 2–related Parkinson's disease was evaluated in a sample of 113 leucine‐rich repeat kinase 2 mutation carriers from 64 families using single‐nucleotide polymorphism data from the Illumina HumanCNV370 genotyping array. Association between onset age and single‐nucleotide polymorphisms under suggestive linkage peaks was also evaluated. The top logarithmic odds score for onset age (logarithmic odds score = 2.43) was in the chromosome 1q32.1 region. Moderate linkage to onset was also identified at 16q12.1 (logarithmic odds score = 1.58). Examination of single‐nucleotide polymorphism association to Parkinson's disease onset under the linkage peaks revealed no statistically significant single‐nucleotide polymorphism associations. The 2 novel genomic regions identified may harbor modifiers of leucine‐rich repeat kinase 2–related Parkinson's disease onset age or penetrance, and further study of these regions may provide important insight into leucine‐rich repeat kinase 2–related Parkinson's disease. © 2011 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p><b>Funding agencies:</b> This project was supported by R01 NS37167, R01 NS036711, the Robert P. & Judith N. Goldberg Foundation, the Bumpus Foundation, and the Harvard NeuroDiscovery Center. A portion of this research was conducted using the Linux Cluster for Genetic Analysis (LinGA‐II) funded by the Robert Dawson Evans Endowment of the Department of Medicine at Boston University School of Medicine, and Boston Medical Center. Genotyping services were provided by the Center for Inherited Disease Research (CIDR), fully funded through a federal contract from the National Institutes of Health to Johns Hopkins University (contract HHSN268200782096C).</p></note><note xml:id="fn2"><p><b>Relevant conflicts of interest/financial disclosures:</b> Nothing to report.</p></note><note xml:id="fn3"><p>Full financial disclosures and author roles may be found in the online version of this article.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Genomewide linkage study of modifiers of LRRK2‐related Parkinson's disease</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Linkage Study of LRRK2‐Related PD</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Genomewide linkage study of modifiers of</title></titleInfo><name type="personal"><namePart type="given">Jeanne C.</namePart><namePart type="family">Latourelle</namePart><namePart type="termsOfAddress">DSc</namePart><affiliation>Boston University School of Medicine, Boston, Massachusetts, USA</affiliation><description>Correspondence: Jeanne Latourelle, 72 East Concord St., B‐617, Boston, MA 02119, USA</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Audrey E.</namePart><namePart type="family">Hendricks</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Boston University School of Public Health, Boston, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nathan</namePart><namePart type="family">Pankratz</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Indiana University School of Medicine, Indianapolis, Indiana, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jemma B.</namePart><namePart type="family">Wilk</namePart><namePart type="termsOfAddress">DSc</namePart><affiliation>Boston University School of Medicine, Boston, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Cheryl</namePart><namePart type="family">Halter</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Indiana University School of Medicine, Indianapolis, Indiana, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">William C.</namePart><namePart type="family">Nichols</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, Ohio, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">James F.</namePart><namePart type="family">Gusella</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Anita L.</namePart><namePart type="family">Destefano</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Boston University School of Medicine, Boston, Massachusetts, USA</affiliation><affiliation>Boston University School of Public Health, Boston, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Richard H.</namePart><namePart type="family">Myers</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Boston University School of Medicine, Boston, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Tatiana</namePart><namePart type="family">Foroud</namePart><namePart type="termsOfAddress">PhD,</namePart><affiliation>Indiana University School of Medicine, Indianapolis, Indiana, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="corporate"><namePart>and the PSG–Progeni GenePD Investigators, Coordinators, and Molecular Genetic Laboratories</namePart><description>Boston University School of Medicine, Boston, Massachusetts, USABoston University School of Public Health, Boston, Massachusetts, USAIndiana University School of Medicine, Indianapolis, Indiana, USACincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, Ohio, USAMassachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA</description></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">2011-09</dateIssued><dateCaptured encoding="w3cdtf">2011-02-16</dateCaptured><dateValid encoding="w3cdtf">2011-04-11</dateValid><copyrightDate encoding="w3cdtf">2011</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">1</extent><extent unit="tables">4</extent><extent unit="references">35</extent><extent unit="words">6953</extent></physicalDescription><abstract lang="en">Mutations in the leucine‐rich repeat kinase 2 gene, located at 12q12, are the most common known genetic causes of Parkinson's disease. Studies of leucine‐rich repeat kinase 2 mutation carriers have shown incomplete and age‐dependent penetrance, and previous studies have suggested that inherited susceptibility factors may modify the penetrance of leucine‐rich repeat kinase 2 mutations. Genomewide linkage to age of onset of leucine‐rich repeat kinase 2–related Parkinson's disease was evaluated in a sample of 113 leucine‐rich repeat kinase 2 mutation carriers from 64 families using single‐nucleotide polymorphism data from the Illumina HumanCNV370 genotyping array. Association between onset age and single‐nucleotide polymorphisms under suggestive linkage peaks was also evaluated. The top logarithmic odds score for onset age (logarithmic odds score = 2.43) was in the chromosome 1q32.1 region. Moderate linkage to onset was also identified at 16q12.1 (logarithmic odds score = 1.58). Examination of single‐nucleotide polymorphism association to Parkinson's disease onset under the linkage peaks revealed no statistically significant single‐nucleotide polymorphism associations. The 2 novel genomic regions identified may harbor modifiers of leucine‐rich repeat kinase 2–related Parkinson's disease onset age or penetrance, and further study of these regions may provide important insight into leucine‐rich repeat kinase 2–related Parkinson's disease. © 2011 Movement Disorder Society</abstract><note type="content">*Funding agencies: This project was supported by R01 NS37167, R01 NS036711, the Robert P. & Judith N. Goldberg Foundation, the Bumpus Foundation, and the Harvard NeuroDiscovery Center. A portion of this research was conducted using the Linux Cluster for Genetic Analysis (LinGA‐II) funded by the Robert Dawson Evans Endowment of the Department of Medicine at Boston University School of Medicine, and Boston Medical Center. Genotyping services were provided by the Center for Inherited Disease Research (CIDR), fully funded through a federal contract from the National Institutes of Health to Johns Hopkins University (contract HHSN268200782096C).</note><note type="content">*Relevant conflicts of interest/financial disclosures: Nothing to report.</note><note type="content">*Full financial disclosures and author roles may be found in the online version of this article.</note><subject lang="en"><genre>Keywords</genre><topic>Parkinson's disease</topic><topic>leucine‐rich repeat kinase 2</topic><topic>linkage</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><genre type="Journal">journal</genre><note type="content"> Additional Supporting Information may be found in the online version of this article.Supporting Info Item: Supporting Information Table S1 - </note><subject><genre>article category</genre><topic>Research Article</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2011</date><detail type="volume"><caption>vol.</caption><number>26</number></detail><detail type="issue"><caption>no.</caption><number>11</number></detail><extent unit="pages"><start>2039</start><end>2044</end><total>6</total></extent></part></relatedItem><identifier type="istex">5D7B285EF0E996B467B7B9CCE8372585614CE1B1</identifier><identifier type="DOI">10.1002/mds.23781</identifier><identifier type="ArticleID">MDS23781</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2011 Movement Disorder Society</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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