Rapid screening of ATP13A2 variant with high‐resolution melting analysis
Identifieur interne : 000D47 ( Main/Corpus ); précédent : 000D46; suivant : 000D48Rapid screening of ATP13A2 variant with high‐resolution melting analysis
Auteurs : Manabu Funayama ; Hiroyuki Tomiyama ; Ruey-Meei Wu ; Kotaro Ogaki ; Hiroyo Yoshino ; Yoshikuni Mizuno ; Nobutaka HattoriSource :
- Movement Disorders [ 0885-3185 ] ; 2010-10-30.
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Abstract
Several genetic and environmental factors are involved in the pathogenesis of Parkinson's disease (PD). Recently, a novel variant of ATP13A2 (p.A746T) responsible for PARK9 was reported as a risk factor for PD in the Han‐Chinese population. To investigate the role of this variant in Japanese PD patients, we examined 917 Japanese PD patients (871 index cases) and 190 controls by high‐resolution melting curve analysis. We detected heterozygous p.A746T variant in a single patient with sporadic PD and a single control subject. These results suggest that ATP13A2 p.A746T variant is unlikely to play a role as a common risk factor or a pathogenic mutation for PD at least in Japanese. Our data on Japanese differ from those reported recently on Han‐Chinese. Further studies are needed to confirm conclusions on roles of ATP13A2 variant in Asians or other populations. © 2010 Movement Disorder Society.
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DOI: 10.1002/mds.23106
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ISTEX:729851685FA90774262460A7CD9C1C1354B32587Le document en format XML
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Ruey Eei" sort="Wu, Ruey Eei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name><affiliation><mods:affiliation>Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name><affiliation><mods:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</mods:affiliation></affiliation></author><author><name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name><affiliation><mods:affiliation>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan</mods:affiliation></affiliation></author><author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name><affiliation><mods:affiliation>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan</mods:affiliation></affiliation></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><affiliation><mods:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</mods:affiliation></affiliation><affiliation><mods:affiliation>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. 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Recently, a novel variant of ATP13A2 (p.A746T) responsible for PARK9 was reported as a risk factor for PD in the Han‐Chinese population. To investigate the role of this variant in Japanese PD patients, we examined 917 Japanese PD patients (871 index cases) and 190 controls by high‐resolution melting curve analysis. We detected heterozygous p.A746T variant in a single patient with sporadic PD and a single control subject. These results suggest that ATP13A2 p.A746T variant is unlikely to play a role as a common risk factor or a pathogenic mutation for PD at least in Japanese. Our data on Japanese differ from those reported recently on Han‐Chinese. Further studies are needed to confirm conclusions on roles of ATP13A2 variant in Asians or other populations. © 2010 Movement Disorder Society.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Manabu Funayama PhD</name><affiliations><json:string>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</json:string><json:string>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan</json:string></affiliations></json:item><json:item><name>Hiroyuki Tomiyama MD, PhD</name><affiliations><json:string>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</json:string></affiliations></json:item><json:item><name>Ruey‐Meei Wu MD, PhD</name><affiliations><json:string>Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan</json:string></affiliations></json:item><json:item><name>Kotaro Ogaki MD</name><affiliations><json:string>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</json:string></affiliations></json:item><json:item><name>Hiroyo Yoshino BS</name><affiliations><json:string>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan</json:string></affiliations></json:item><json:item><name>Yoshikuni Mizuno MD</name><affiliations><json:string>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan</json:string></affiliations></json:item><json:item><name>Nobutaka Hattori MD, PhD</name><affiliations><json:string>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</json:string><json:string>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan</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>gene risk factor</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>PARK9</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>lightscanner</value></json:item></subject><articleId><json:string>MDS23106</json:string></articleId><language><json:string>eng</json:string></language><abstract>Several genetic and environmental factors are involved in the pathogenesis of Parkinson's disease (PD). Recently, a novel variant of ATP13A2 (p.A746T) responsible for PARK9 was reported as a risk factor for PD in the Han‐Chinese population. To investigate the role of this variant in Japanese PD patients, we examined 917 Japanese PD patients (871 index cases) and 190 controls by high‐resolution melting curve analysis. We detected heterozygous p.A746T variant in a single patient with sporadic PD and a single control subject. These results suggest that ATP13A2 p.A746T variant is unlikely to play a role as a common risk factor or a pathogenic mutation for PD at least in Japanese. Our data on Japanese differ from those reported recently on Han‐Chinese. 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Recently, a novel variant of ATP13A2 (p.A746T) responsible for PARK9 was reported as a risk factor for PD in the Han‐Chinese population. To investigate the role of this variant in Japanese PD patients, we examined 917 Japanese PD patients (871 index cases) and 190 controls by high‐resolution melting curve analysis. We detected heterozygous p.A746T variant in a single patient with sporadic PD and a single control subject. These results suggest that ATP13A2 p.A746T variant is unlikely to play a role as a common risk factor or a pathogenic mutation for PD at least in Japanese. Our data on Japanese differ from those reported recently on Han‐Chinese. Further studies are needed to confirm conclusions on roles of ATP13A2 variant in Asians or other populations. © 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>gene risk factor</term></item><item><term>PARK9</term></item><item><term>lightscanner</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="2009-08-31">Received</change><change when="2010-02-22">Registration</change><change when="2010-10-30">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/729851685FA90774262460A7CD9C1C1354B32587/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="140"><doi origin="wiley" registered="yes">10.1002/mds.v25:14</doi><numberingGroup><numbering type="journalVolume" number="25">25</numbering><numbering type="journalIssue">14</numbering></numberingGroup><coverDate startDate="2010-10-30">30 October 2010</coverDate></publicationMeta><publicationMeta level="unit" type="shortCommunication" position="240" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.23106</doi><idGroup><id type="unit" value="MDS23106"></id></idGroup><countGroup><count type="pageTotal" number="4"></count></countGroup><titleGroup><title type="articleCategory">Brief Report</title><title type="tocHeading1">Brief Reports</title></titleGroup><copyright ownership="thirdParty">Copyright © 2010 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2009-08-31"></event><event type="manuscriptRevised" date="2009-11-20"></event><event type="manuscriptAccepted" date="2010-02-22"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.5.2 mode:FullText source:FullText result:FullText" date="2011-07-06"></event><event type="publishedOnlineFinalForm" date="2010-10-25"></event><event type="firstOnline" date="2010-10-25"></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">2434</numbering><numbering type="pageLast">2437</numbering></numberingGroup><correspondenceTo>Department of Neurology, Juntendo University School of Medicine, 2‐1‐1 Hongo, Bunkyo‐ku, Tokyo 113‐8421, Japan</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS23106.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="2"></count><count type="referenceTotal" number="19"></count><count type="wordTotal" number="0"></count></countGroup><titleGroup><title type="main" xml:lang="en">Rapid screening of <i>ATP13A2</i> variant with high‐resolution melting analysis<link href="#fn1"></link></title><title type="short" xml:lang="en"><fi>ATP13A2</fi> Variant in Japanese PD</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Manabu</givenNames><familyName>Funayama</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Hiroyuki</givenNames><familyName>Tomiyama</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Ruey‐Meei</givenNames><familyName>Wu</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Kotaro</givenNames><familyName>Ogaki</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Hiroyo</givenNames><familyName>Yoshino</familyName><degrees>BS</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Yoshikuni</givenNames><familyName>Mizuno</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af1 #af2" corresponding="yes"><personName><givenNames>Nobutaka</givenNames><familyName>Hattori</familyName><degrees>MD, PhD</degrees></personName><contactDetails><email>nhattori@juntendo.ac.jp</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="JP" type="organization"><unparsedAffiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="JP" type="organization"><unparsedAffiliation>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="TW" type="organization"><unparsedAffiliation>Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Parkinson's disease</keyword><keyword xml:id="kwd2">gene risk factor</keyword><keyword xml:id="kwd3">PARK9</keyword><keyword xml:id="kwd4">lightscanner</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Several genetic and environmental factors are involved in the pathogenesis of Parkinson's disease (PD). Recently, a novel variant of <i>ATP13A2</i> (p.A746T) responsible for <i>PARK9</i> was reported as a risk factor for PD in the Han‐Chinese population. To investigate the role of this variant in Japanese PD patients, we examined 917 Japanese PD patients (871 index cases) and 190 controls by high‐resolution melting curve analysis. We detected heterozygous p.A746T variant in a single patient with sporadic PD and a single control subject. These results suggest that <i>ATP13A2</i> p.A746T variant is unlikely to play a role as a common risk factor or a pathogenic mutation for PD at least in Japanese. Our data on Japanese differ from those reported recently on Han‐Chinese. Further studies are needed to confirm conclusions on roles of <i>ATP13A2</i> variant in Asians or other populations. © 2010 Movement Disorder Society.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>Potential conflict of interest: Nothing to report.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Rapid screening of ATP13A2 variant with high‐resolution melting analysis</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>ATP13A2 Variant in Japanese PD</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Rapid screening of</title></titleInfo><name type="personal"><namePart type="given">Manabu</namePart><namePart type="family">Funayama</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</affiliation><affiliation>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hiroyuki</namePart><namePart type="family">Tomiyama</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ruey‐Meei</namePart><namePart type="family">Wu</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kotaro</namePart><namePart type="family">Ogaki</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hiroyo</namePart><namePart type="family">Yoshino</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Yoshikuni</namePart><namePart type="family">Mizuno</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nobutaka</namePart><namePart type="family">Hattori</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</affiliation><affiliation>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan</affiliation><description>Correspondence: Department of Neurology, Juntendo University School of Medicine, 2‐1‐1 Hongo, Bunkyo‐ku, Tokyo 113‐8421, Japan</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="brief communication" displayLabel="shortCommunication"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2010-10-30</dateIssued><dateCaptured encoding="w3cdtf">2009-08-31</dateCaptured><dateValid encoding="w3cdtf">2010-02-22</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">2</extent><extent unit="references">19</extent></physicalDescription><abstract lang="en">Several genetic and environmental factors are involved in the pathogenesis of Parkinson's disease (PD). Recently, a novel variant of ATP13A2 (p.A746T) responsible for PARK9 was reported as a risk factor for PD in the Han‐Chinese population. To investigate the role of this variant in Japanese PD patients, we examined 917 Japanese PD patients (871 index cases) and 190 controls by high‐resolution melting curve analysis. We detected heterozygous p.A746T variant in a single patient with sporadic PD and a single control subject. These results suggest that ATP13A2 p.A746T variant is unlikely to play a role as a common risk factor or a pathogenic mutation for PD at least in Japanese. Our data on Japanese differ from those reported recently on Han‐Chinese. Further studies are needed to confirm conclusions on roles of ATP13A2 variant in Asians or other populations. © 2010 Movement Disorder Society.</abstract><note type="content">*Potential conflict of interest: Nothing to report.</note><subject lang="en"><genre>Keywords</genre><topic>Parkinson's disease</topic><topic>gene risk factor</topic><topic>PARK9</topic><topic>lightscanner</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>14</number></detail><extent unit="pages"><start>2434</start><end>2437</end><total>4</total></extent></part></relatedItem><identifier type="istex">729851685FA90774262460A7CD9C1C1354B32587</identifier><identifier type="DOI">10.1002/mds.23106</identifier><identifier type="ArticleID">MDS23106</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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