Common variants in PARK loci and related genes and Parkinson's disease
Identifieur interne : 000315 ( Main/Corpus ); précédent : 000314; suivant : 000316Common variants in PARK loci and related genes and Parkinson's disease
Auteurs : Sun Ju Chung ; Sebastian M. Armasu ; Joanna M. Biernacka ; Timothy G. Lesnick ; David N. Rider ; Sarah J. Lincoln ; Alexandra I. Ortolaza ; Matthew J. Farrer ; Julie M. Cunningham ; Walter A. Rocca ; Demetrius M. MaraganoreSource :
- Movement Disorders [ 0885-3185 ] ; 2011-02-01.
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Abstract
Rare mutations in PARK loci genes cause Parkinson's disease (PD) in some families and isolated populations. We investigated the association of common variants in PARK loci and related genes with PD susceptibility and age at onset in an outbred population. A total of 1,103 PD cases from the upper Midwest, USA, were individually matched to unaffected siblings (n = 654) or unrelated controls (n = 449) from the same region. Using a sequencing approach in 25 cases and 25 controls, single nucleotide polymorphisms (SNPs) in species‐conserved regions of PARK loci and related genes were detected. We selected additional tag SNPs from the HapMap. We genotyped a total of 235 SNPs and two variable number tandem repeats in the ATP13A2, DJ1, LRRK1, LRRK2, MAPT, Omi/HtrA2, PARK2, PINK1, SNCA, SNCB, SNCG, SPR, and UCHL1 genes in all 2,206 subjects. Case‐control analyses were performed to study association with PD susceptibility, while cases‐only analyses were used to study association with age at onset. Only MAPT SNP rs2435200 was associated with PD susceptibility after correction for multiple testing (OR = 0.74, 95% CI = 0.64–0.86, uncorrected P < 0.0001, log additive model); however, 16 additional MAPT variants, seven SNCA variants, and one LRRK2, PARK2, and UCHL1 variants each had significant uncorrected P‐values. There were no significant associations for age at onset after correction for multiple testing. Our results confirm the association of MAPT and SNCA genes with PD susceptibility but show limited association of other PARK loci and related genes with PD. © 2010 Movement Disorder Society
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DOI: 10.1002/mds.23376
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Farrer</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Cunningham, Julie M" sort="Cunningham, Julie M" uniqKey="Cunningham J" first="Julie M." last="Cunningham">Julie M. Cunningham</name><affiliation><mods:affiliation>Department of Laboratory Medicine, Mayo Clinic, Rochester, Minnesota, USA</mods:affiliation></affiliation></author><author><name sortKey="Rocca, Walter A" sort="Rocca, Walter A" uniqKey="Rocca W" first="Walter A." last="Rocca">Walter A. Rocca</name><affiliation><mods:affiliation>Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</mods:affiliation></affiliation></author><author><name sortKey="Maraganore, Demetrius M" sort="Maraganore, Demetrius M" uniqKey="Maraganore D" first="Demetrius M." last="Maraganore">Demetrius M. Maraganore</name><affiliation><mods:affiliation>Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, NorthShore University HealthSystem, Evanston, Illinois, USA</mods:affiliation></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><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-02-01">2011-02-01</date><biblScope unit="volume">26</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="280">280</biblScope><biblScope unit="page" to="288">288</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">51897DD8CE09DF27138BA8382CB9B9E25BFB08BB</idno><idno type="DOI">10.1002/mds.23376</idno><idno type="ArticleID">MDS23376</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>PARK loci genes</term><term>Parkinson's disease</term><term>age at onset of Parkinson's disease</term><term>common genetic variants</term><term>susceptibility to Parkinson's disease</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Rare mutations in PARK loci genes cause Parkinson's disease (PD) in some families and isolated populations. We investigated the association of common variants in PARK loci and related genes with PD susceptibility and age at onset in an outbred population. A total of 1,103 PD cases from the upper Midwest, USA, were individually matched to unaffected siblings (n = 654) or unrelated controls (n = 449) from the same region. Using a sequencing approach in 25 cases and 25 controls, single nucleotide polymorphisms (SNPs) in species‐conserved regions of PARK loci and related genes were detected. We selected additional tag SNPs from the HapMap. We genotyped a total of 235 SNPs and two variable number tandem repeats in the ATP13A2, DJ1, LRRK1, LRRK2, MAPT, Omi/HtrA2, PARK2, PINK1, SNCA, SNCB, SNCG, SPR, and UCHL1 genes in all 2,206 subjects. Case‐control analyses were performed to study association with PD susceptibility, while cases‐only analyses were used to study association with age at onset. Only MAPT SNP rs2435200 was associated with PD susceptibility after correction for multiple testing (OR = 0.74, 95% CI = 0.64–0.86, uncorrected P < 0.0001, log additive model); however, 16 additional MAPT variants, seven SNCA variants, and one LRRK2, PARK2, and UCHL1 variants each had significant uncorrected P‐values. There were no significant associations for age at onset after correction for multiple testing. Our results confirm the association of MAPT and SNCA genes with PD susceptibility but show limited association of other PARK loci and related genes with PD. © 2010 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Sun Ju Chung MD, PhD</name><affiliations><json:string>Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA</json:string><json:string>Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea</json:string></affiliations></json:item><json:item><name>Sebastian M. Armasu MS</name><affiliations><json:string>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</json:string></affiliations></json:item><json:item><name>Joanna M. Biernacka PhD</name><affiliations><json:string>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</json:string></affiliations></json:item><json:item><name>Timothy G. Lesnick MS</name><affiliations><json:string>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</json:string></affiliations></json:item><json:item><name>David N. Rider MSE</name><affiliations><json:string>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, 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>Alexandra I. Ortolaza</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>Julie M. Cunningham PhD</name><affiliations><json:string>Department of Laboratory Medicine, Mayo Clinic, Rochester, Minnesota, USA</json:string></affiliations></json:item><json:item><name>Walter A. Rocca MD, MPH</name><affiliations><json:string>Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA</json:string><json:string>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</json:string></affiliations></json:item><json:item><name>Demetrius M. Maraganore MD</name><affiliations><json:string>Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA</json:string><json:string>Department of Neurology, NorthShore University HealthSystem, Evanston, Illinois, 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>PARK loci genes</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>common genetic variants</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>susceptibility to Parkinson's disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>age at onset of Parkinson's disease</value></json:item></subject><articleId><json:string>MDS23376</json:string></articleId><language><json:string>eng</json:string></language><abstract>Rare mutations in PARK loci genes cause Parkinson's disease (PD) in some families and isolated populations. We investigated the association of common variants in PARK loci and related genes with PD susceptibility and age at onset in an outbred population. A total of 1,103 PD cases from the upper Midwest, USA, were individually matched to unaffected siblings (n = 654) or unrelated controls (n = 449) from the same region. Using a sequencing approach in 25 cases and 25 controls, single nucleotide polymorphisms (SNPs) in species‐conserved regions of PARK loci and related genes were detected. We selected additional tag SNPs from the HapMap. We genotyped a total of 235 SNPs and two variable number tandem repeats in the ATP13A2, DJ1, LRRK1, LRRK2, MAPT, Omi/HtrA2, PARK2, PINK1, SNCA, SNCB, SNCG, SPR, and UCHL1 genes in all 2,206 subjects. Case‐control analyses were performed to study association with PD susceptibility, while cases‐only analyses were used to study association with age at onset. Only MAPT SNP rs2435200 was associated with PD susceptibility after correction for multiple testing (OR = 0.74, 95% CI = 0.64–0.86, uncorrected P > 0.0001, log additive model); however, 16 additional MAPT variants, seven SNCA variants, and one LRRK2, PARK2, and UCHL1 variants each had significant uncorrected P‐values. There were no significant associations for age at onset after correction for multiple testing. Our results confirm the association of MAPT and SNCA genes with PD susceptibility but show limited association of other PARK loci and related genes with PD. © 2010 Movement Disorder Society</abstract><qualityIndicators><score>8</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>5</keywordCount><abstractCharCount>1606</abstractCharCount><pdfWordCount>5200</pdfWordCount><pdfCharCount>34155</pdfCharCount><pdfPageCount>9</pdfPageCount><abstractWordCount>252</abstractWordCount></qualityIndicators><title>Common variants in PARK loci and related genes and Parkinson's disease</title><genre><json:string>article</json:string></genre><host><volume>26</volume><publisherId><json:string>MDS</json:string></publisherId><pages><total>9</total><last>288</last><first>280</first></pages><issn><json:string>0885-3185</json:string></issn><issue>2</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.23376</json:string></doi><id>51897DD8CE09DF27138BA8382CB9B9E25BFB08BB</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/51897DD8CE09DF27138BA8382CB9B9E25BFB08BB/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/51897DD8CE09DF27138BA8382CB9B9E25BFB08BB/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/51897DD8CE09DF27138BA8382CB9B9E25BFB08BB/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Common variants in PARK loci and related genes and 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">*Relevant conflicts of interest/financial disclosures: Nothing to report. Full financial disclosures and author roles can be found in the online version of this article.</note><note>NIH - No. 2R01ES10751;</note><note>Mayo's Molecular Epidemiology of Parkinson's Disease research team</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Common variants in PARK loci and related genes and Parkinson's disease</title><author><persName><forename type="first">Sun Ju</forename><surname>Chung</surname></persName><roleName type="degree">MD, PhD</roleName><affiliation>Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA</affiliation><affiliation>Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea</affiliation></author><author><persName><forename type="first">Sebastian M.</forename><surname>Armasu</surname></persName><roleName type="degree">MS</roleName><affiliation>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</affiliation></author><author><persName><forename type="first">Joanna M.</forename><surname>Biernacka</surname></persName><roleName type="degree">PhD</roleName><affiliation>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</affiliation></author><author><persName><forename type="first">Timothy G.</forename><surname>Lesnick</surname></persName><roleName type="degree">MS</roleName><affiliation>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</affiliation></author><author><persName><forename type="first">David N.</forename><surname>Rider</surname></persName><roleName type="degree">MSE</roleName><affiliation>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</affiliation></author><author><persName><forename type="first">Sarah J.</forename><surname>Lincoln</surname></persName><roleName type="degree">BS</roleName><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Alexandra I.</forename><surname>Ortolaza</surname></persName><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Matthew J.</forename><surname>Farrer</surname></persName><roleName type="degree">PhD</roleName><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Julie M.</forename><surname>Cunningham</surname></persName><roleName type="degree">PhD</roleName><affiliation>Department of Laboratory Medicine, Mayo Clinic, Rochester, Minnesota, USA</affiliation></author><author><persName><forename type="first">Walter A.</forename><surname>Rocca</surname></persName><roleName type="degree">MD, MPH</roleName><affiliation>Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA</affiliation><affiliation>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</affiliation></author><author><persName><forename type="first">Demetrius M.</forename><surname>Maraganore</surname></persName><roleName type="degree">MD</roleName><note type="correspondence"><p>Correspondence: Ruth Cain Ruggles Chairman, Department of Neurology, NorthShore University HealthSystem, 2650 Ridge Avenue, Evanston, IL 60201</p></note><affiliation>Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA</affiliation><affiliation>Department of Neurology, NorthShore University HealthSystem, Evanston, Illinois, USA</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="pISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><idno type="DOI">10.1002/(ISSN)1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-02-01"></date><biblScope unit="volume">26</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="280">280</biblScope><biblScope unit="page" to="288">288</biblScope></imprint></monogr><idno type="istex">51897DD8CE09DF27138BA8382CB9B9E25BFB08BB</idno><idno type="DOI">10.1002/mds.23376</idno><idno type="ArticleID">MDS23376</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2011</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Rare mutations in PARK loci genes cause Parkinson's disease (PD) in some families and isolated populations. We investigated the association of common variants in PARK loci and related genes with PD susceptibility and age at onset in an outbred population. A total of 1,103 PD cases from the upper Midwest, USA, were individually matched to unaffected siblings (n = 654) or unrelated controls (n = 449) from the same region. Using a sequencing approach in 25 cases and 25 controls, single nucleotide polymorphisms (SNPs) in species‐conserved regions of PARK loci and related genes were detected. We selected additional tag SNPs from the HapMap. We genotyped a total of 235 SNPs and two variable number tandem repeats in the ATP13A2, DJ1, LRRK1, LRRK2, MAPT, Omi/HtrA2, PARK2, PINK1, SNCA, SNCB, SNCG, SPR, and UCHL1 genes in all 2,206 subjects. Case‐control analyses were performed to study association with PD susceptibility, while cases‐only analyses were used to study association with age at onset. Only MAPT SNP rs2435200 was associated with PD susceptibility after correction for multiple testing (OR = 0.74, 95% CI = 0.64–0.86, uncorrected P < 0.0001, log additive model); however, 16 additional MAPT variants, seven SNCA variants, and one LRRK2, PARK2, and UCHL1 variants each had significant uncorrected P‐values. There were no significant associations for age at onset after correction for multiple testing. Our results confirm the association of MAPT and SNCA genes with PD susceptibility but show limited association of other PARK loci and related genes with PD. © 2010 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>PARK loci genes</term></item><item><term>common genetic variants</term></item><item><term>susceptibility to Parkinson's disease</term></item><item><term>age at onset of Parkinson's disease</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="2009-10-20">Received</change><change when="2010-07-05">Registration</change><change when="2011-02-01">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/51897DD8CE09DF27138BA8382CB9B9E25BFB08BB/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. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="20"><doi origin="wiley" registered="yes">10.1002/mds.v26.2</doi><numberingGroup><numbering type="journalVolume" number="26">26</numbering><numbering type="journalIssue">2</numbering></numberingGroup><coverDate startDate="2011-02-01">1 February 2011</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="170" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.23376</doi><idGroup><id type="unit" value="MDS23376"></id></idGroup><countGroup><count type="pageTotal" number="9"></count></countGroup><titleGroup><title type="articleCategory">Research Article</title><title type="tocHeading1">Research Articles</title></titleGroup><copyright ownership="thirdParty">Copyright © 2010 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2009-10-20"></event><event type="manuscriptRevised" date="2010-06-08"></event><event type="manuscriptAccepted" date="2010-07-05"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:3.0.1 mode:FullText" date="2012-01-23"></event><event type="publishedOnlineEarlyUnpaginated" date="2010-12-13"></event><event type="publishedOnlineFinalForm" date="2011-03-14"></event><event type="firstOnline" date="2010-12-13"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-02-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-31"></event></eventGroup><numberingGroup><numbering type="pageFirst">280</numbering><numbering type="pageLast">288</numbering></numberingGroup><correspondenceTo>Ruth Cain Ruggles Chairman, Department of Neurology, NorthShore University HealthSystem, 2650 Ridge Avenue, Evanston, IL 60201</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS23376.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="2"></count><count type="tableTotal" number="3"></count><count type="referenceTotal" number="55"></count><count type="wordTotal" number="7562"></count></countGroup><titleGroup><title type="main" xml:lang="en">Common variants in PARK loci and related genes and Parkinson's disease<link href="#fn10"></link></title><title type="short" xml:lang="en">Common Variants in Park LOCI</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Sun Ju</givenNames><familyName>Chung</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Sebastian M.</givenNames><familyName>Armasu</familyName><degrees>MS</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Joanna M.</givenNames><familyName>Biernacka</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Timothy G.</givenNames><familyName>Lesnick</familyName><degrees>MS</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af3"><personName><givenNames>David N.</givenNames><familyName>Rider</familyName><degrees>MSE</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Sarah J.</givenNames><familyName>Lincoln</familyName><degrees>BS</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Alexandra I.</givenNames><familyName>Ortolaza</familyName></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Matthew J.</givenNames><familyName>Farrer</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Julie M.</givenNames><familyName>Cunningham</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af1 #af3"><personName><givenNames>Walter A.</givenNames><familyName>Rocca</familyName><degrees>MD, MPH</degrees></personName></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af1 #af6" corresponding="yes"><personName><givenNames>Demetrius M.</givenNames><familyName>Maraganore</familyName><degrees>MD</degrees></personName><contactDetails><email>dmaraganore@northshore.org</email><email>dmaraganore@me.com</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="KP" type="organization"><unparsedAffiliation>Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="US" type="organization"><unparsedAffiliation>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="US" type="organization"><unparsedAffiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="US" type="organization"><unparsedAffiliation>Department of Laboratory Medicine, Mayo Clinic, Rochester, Minnesota, USA</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, NorthShore University HealthSystem, Evanston, Illinois, USA</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Parkinson's disease</keyword><keyword xml:id="kwd2">PARK loci genes</keyword><keyword xml:id="kwd3">common genetic variants</keyword><keyword xml:id="kwd4">susceptibility to Parkinson's disease</keyword><keyword xml:id="kwd5">age at onset of Parkinson's disease</keyword></keywordGroup><fundingInfo><fundingAgency>NIH</fundingAgency><fundingNumber>2R01ES10751</fundingNumber></fundingInfo><fundingInfo><fundingAgency>Mayo's Molecular Epidemiology of Parkinson's Disease research team</fundingAgency></fundingInfo><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:mds23376:MDS_23376_sm_suppfig"></mediaResource><caption>Supporting Figure 1</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23376:MDS_23376_sm_supptab"></mediaResource><caption>Supporting Table 1</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Rare mutations in PARK loci genes cause Parkinson's disease (PD) in some families and isolated populations. We investigated the association of common variants in PARK loci and related genes with PD susceptibility and age at onset in an outbred population. A total of 1,103 PD cases from the upper Midwest, USA, were individually matched to unaffected siblings (n = 654) or unrelated controls (n = 449) from the same region. Using a sequencing approach in 25 cases and 25 controls, single nucleotide polymorphisms (SNPs) in species‐conserved regions of PARK loci and related genes were detected. We selected additional tag SNPs from the HapMap. We genotyped a total of 235 SNPs and two variable number tandem repeats in the <i>ATP13A2</i>, <i>DJ1</i>, <i>LRRK1</i>, <i>LRRK2</i>, <i>MAPT</i>, <i>Omi</i>/<i>HtrA2</i>, <i>PARK2</i>, <i>PINK1</i>, <i>SNCA</i>, <i>SNCB</i>, <i>SNCG</i>, <i>SPR</i>, and <i>UCHL1</i> genes in all 2,206 subjects. Case‐control analyses were performed to study association with PD susceptibility, while cases‐only analyses were used to study association with age at onset. Only <i>MAPT</i> SNP rs2435200 was associated with PD susceptibility after correction for multiple testing (OR = 0.74, 95% CI = 0.64–0.86, uncorrected <i>P</i> < 0.0001, log additive model); however, 16 additional <i>MAPT</i> variants, seven <i>SNCA</i> variants, and one <i>LRRK2</i>, <i>PARK2</i>, and <i>UCHL1</i> variants each had significant uncorrected <i>P</i>‐values. There were no significant associations for age at onset after correction for multiple testing. Our results confirm the association of <i>MAPT</i> and <i>SNCA</i> genes with PD susceptibility but show limited association of other PARK loci and related genes with PD. © 2010 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn10"><p><b>Relevant conflicts of interest/financial disclosures</b>: Nothing to report. Full financial disclosures and author roles can 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>Common variants in PARK loci and related genes and Parkinson's disease</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Common Variants in Park LOCI</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Common variants in PARK loci and related genes and Parkinson's disease</title></titleInfo><name type="personal"><namePart type="given">Sun Ju</namePart><namePart type="family">Chung</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA</affiliation><affiliation>Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sebastian M.</namePart><namePart type="family">Armasu</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Joanna M.</namePart><namePart type="family">Biernacka</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Timothy G.</namePart><namePart type="family">Lesnick</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">David N.</namePart><namePart type="family">Rider</namePart><namePart type="termsOfAddress">MSE</namePart><affiliation>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, 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">Alexandra I.</namePart><namePart type="family">Ortolaza</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><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Julie M.</namePart><namePart type="family">Cunningham</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Laboratory Medicine, Mayo Clinic, Rochester, Minnesota, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Walter A.</namePart><namePart type="family">Rocca</namePart><namePart type="termsOfAddress">MD, MPH</namePart><affiliation>Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA</affiliation><affiliation>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Demetrius M.</namePart><namePart type="family">Maraganore</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA</affiliation><affiliation>Department of Neurology, NorthShore University HealthSystem, Evanston, Illinois, USA</affiliation><description>Correspondence: Ruth Cain Ruggles Chairman, Department of Neurology, NorthShore University HealthSystem, 2650 Ridge Avenue, Evanston, IL 60201</description><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">2011-02-01</dateIssued><dateCaptured encoding="w3cdtf">2009-10-20</dateCaptured><dateValid encoding="w3cdtf">2010-07-05</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">2</extent><extent unit="tables">3</extent><extent unit="references">55</extent><extent unit="words">7562</extent></physicalDescription><abstract lang="en">Rare mutations in PARK loci genes cause Parkinson's disease (PD) in some families and isolated populations. We investigated the association of common variants in PARK loci and related genes with PD susceptibility and age at onset in an outbred population. A total of 1,103 PD cases from the upper Midwest, USA, were individually matched to unaffected siblings (n = 654) or unrelated controls (n = 449) from the same region. Using a sequencing approach in 25 cases and 25 controls, single nucleotide polymorphisms (SNPs) in species‐conserved regions of PARK loci and related genes were detected. We selected additional tag SNPs from the HapMap. We genotyped a total of 235 SNPs and two variable number tandem repeats in the ATP13A2, DJ1, LRRK1, LRRK2, MAPT, Omi/HtrA2, PARK2, PINK1, SNCA, SNCB, SNCG, SPR, and UCHL1 genes in all 2,206 subjects. Case‐control analyses were performed to study association with PD susceptibility, while cases‐only analyses were used to study association with age at onset. Only MAPT SNP rs2435200 was associated with PD susceptibility after correction for multiple testing (OR = 0.74, 95% CI = 0.64–0.86, uncorrected P < 0.0001, log additive model); however, 16 additional MAPT variants, seven SNCA variants, and one LRRK2, PARK2, and UCHL1 variants each had significant uncorrected P‐values. There were no significant associations for age at onset after correction for multiple testing. Our results confirm the association of MAPT and SNCA genes with PD susceptibility but show limited association of other PARK loci and related genes with PD. © 2010 Movement Disorder Society</abstract><note type="content">*Relevant conflicts of interest/financial disclosures: Nothing to report. Full financial disclosures and author roles can be found in the online version of this article.</note><note type="funding">NIH - No. 2R01ES10751; </note><note type="funding">Mayo's Molecular Epidemiology of Parkinson's Disease research team</note><subject lang="en"><genre>Keywords</genre><topic>Parkinson's disease</topic><topic>PARK loci genes</topic><topic>common genetic variants</topic><topic>susceptibility to Parkinson's disease</topic><topic>age at onset of Parkinson's disease</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 Figure 1 - Supporting Table 1 - </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>2</number></detail><extent unit="pages"><start>280</start><end>288</end><total>9</total></extent></part></relatedItem><identifier type="istex">51897DD8CE09DF27138BA8382CB9B9E25BFB08BB</identifier><identifier type="DOI">10.1002/mds.23376</identifier><identifier type="ArticleID">MDS23376</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2010 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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