Glucocerebrosidase Gene L444P mutation is a risk factor for Parkinson's disease in Chinese population
Identifieur interne : 000276 ( Main/Corpus ); précédent : 000275; suivant : 000277Glucocerebrosidase Gene L444P mutation is a risk factor for Parkinson's disease in Chinese population
Auteurs : Qi-Ying Sun ; Ji-Feng Guo ; Lei Wang ; Ren-He Yu ; Xing Zuo ; Ling-Yan Yao ; Qian Pan ; Kun Xia ; Bei-Sha TangSource :
- Movement Disorders [ 0885-3185 ] ; 2010-06-15.
English descriptors
Abstract
An association between mutations in the glucocerebrosidase (GBA) gene and Parkinson's disease (PD) has been reported in several populations. We searched for four common GBA mutations (L444P, F213I, R353W, and N370S) in 402 Chinese PD patients and 413 age‐ and sex‐matched controls. In the PD cohort, 11 patients were found carrying a heterozygous GBA mutation and all of them had the L444P mutation. Heterozygous GBA mutations were detected none in controls. The GBA gene L444P mutation was detected at a significantly higher frequency among PD patients (11/402 = 2.74%), when compared with the control group (0/413): P = 0.0007. To evaluate the possible role of the GBA gene L444P mutation in PD in Ashkenazi Jewish and non‐Jewish populations, we conducted a meta‐analysis on the topic. In the Chinese population, the GBA gene L444P mutation was detected at a significantly higher frequency among PD patients, when compared with the control group: Z = 3.83, P = 0.0001, OR = 8.42, confidence interval = 95%, 2.83–25.06. In the non‐Jewish populations, the difference was obviously significant: Z = 5.76, P < 0.00001, OR = 8.82, confidence interval = 95%, 4.21–18.48. The results suggest that the GBA gene L444P mutation appears to be a risk factor for PD in Chinese population. © 2010 Movement Disorder Society
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DOI: 10.1002/mds.23009
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We searched for four common GBA mutations (L444P, F213I, R353W, and N370S) in 402 Chinese PD patients and 413 age‐ and sex‐matched controls. In the PD cohort, 11 patients were found carrying a heterozygous GBA mutation and all of them had the L444P mutation. Heterozygous GBA mutations were detected none in controls. The GBA gene L444P mutation was detected at a significantly higher frequency among PD patients (11/402 = 2.74%), when compared with the control group (0/413): P = 0.0007. To evaluate the possible role of the GBA gene L444P mutation in PD in Ashkenazi Jewish and non‐Jewish populations, we conducted a meta‐analysis on the topic. In the Chinese population, the GBA gene L444P mutation was detected at a significantly higher frequency among PD patients, when compared with the control group: Z = 3.83, P = 0.0001, OR = 8.42, confidence interval = 95%, 2.83–25.06. In the non‐Jewish populations, the difference was obviously significant: Z = 5.76, P < 0.00001, OR = 8.82, confidence interval = 95%, 4.21–18.48. The results suggest that the GBA gene L444P mutation appears to be a risk factor for PD in Chinese population. © 2010 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Qi‐Ying Sun MD</name><affiliations><json:string>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China</json:string></affiliations></json:item><json:item><name>Ji‐Feng Guo MD</name><affiliations><json:string>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China</json:string><json:string>Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan, People's Republic of China</json:string></affiliations></json:item><json:item><name>Lei Wang MD</name><affiliations><json:string>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China</json:string></affiliations></json:item><json:item><name>Ren‐He Yu PhD</name><affiliations><json:string>School of Public Health, Central South University, Changsha, Hunan, People's Republic of China</json:string></affiliations></json:item><json:item><name>Xing Zuo MD</name><affiliations><json:string>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China</json:string></affiliations></json:item><json:item><name>Ling‐Yan Yao MD</name><affiliations><json:string>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China</json:string></affiliations></json:item><json:item><name>Qian Pan PhD</name><affiliations><json:string>National Lab of Medical Genetics of China, Changsha, Hunan, People's Republic of China</json:string></affiliations></json:item><json:item><name>Kun Xia PhD</name><affiliations><json:string>National Lab of Medical Genetics of China, Changsha, Hunan, People's Republic of China</json:string></affiliations></json:item><json:item><name>Bei‐Sha Tang MD</name><affiliations><json:string>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China</json:string><json:string>Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan, People's Republic of China</json:string><json:string>National Lab of Medical Genetics of China, Changsha, Hunan, People's Republic of China</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Gaucher disease</value></json:item><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>glucocerebrosidase</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>meta‐analysis</value></json:item></subject><articleId><json:string>MDS23009</json:string></articleId><language><json:string>eng</json:string></language><abstract>An association between mutations in the glucocerebrosidase (GBA) gene and Parkinson's disease (PD) has been reported in several populations. We searched for four common GBA mutations (L444P, F213I, R353W, and N370S) in 402 Chinese PD patients and 413 age‐ and sex‐matched controls. In the PD cohort, 11 patients were found carrying a heterozygous GBA mutation and all of them had the L444P mutation. Heterozygous GBA mutations were detected none in controls. The GBA gene L444P mutation was detected at a significantly higher frequency among PD patients (11/402 = 2.74%), when compared with the control group (0/413): P = 0.0007. To evaluate the possible role of the GBA gene L444P mutation in PD in Ashkenazi Jewish and non‐Jewish populations, we conducted a meta‐analysis on the topic. In the Chinese population, the GBA gene L444P mutation was detected at a significantly higher frequency among PD patients, when compared with the control group: Z = 3.83, P = 0.0001, OR = 8.42, confidence interval = 95%, 2.83–25.06. In the non‐Jewish populations, the difference was obviously significant: Z = 5.76, P > 0.00001, OR = 8.82, confidence interval = 95%, 4.21–18.48. The results suggest that the GBA gene L444P mutation appears to be a risk factor for PD in Chinese population. © 2010 Movement Disorder Society</abstract><qualityIndicators><score>5.623</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>4</keywordCount><abstractCharCount>1310</abstractCharCount><pdfWordCount>3079</pdfWordCount><pdfCharCount>21150</pdfCharCount><pdfPageCount>7</pdfPageCount><abstractWordCount>212</abstractWordCount></qualityIndicators><title>Glucocerebrosidase Gene L444P mutation is a risk factor for Parkinson's disease in Chinese population</title><genre><json:string>article</json:string></genre><host><volume>25</volume><publisherId><json:string>MDS</json:string></publisherId><pages><total>7</total><last>1011</last><first>1005</first></pages><issn><json:string>0885-3185</json:string></issn><issue>8</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>2010</publicationDate><copyrightDate>2010</copyrightDate><doi><json:string>10.1002/mds.23009</json:string></doi><id>16149A7F8E426CD71A6BCB6AF17A7A9D021781F5</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/16149A7F8E426CD71A6BCB6AF17A7A9D021781F5/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/16149A7F8E426CD71A6BCB6AF17A7A9D021781F5/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/16149A7F8E426CD71A6BCB6AF17A7A9D021781F5/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Glucocerebrosidase Gene L444P mutation is a risk factor for Parkinson's disease in Chinese population</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>WILEY</p></availability><date>2010</date></publicationStmt><notesStmt><note type="content">*Potential conflict of interest: Nothing to report.</note><note>Major State Basic Research Development Program of China - No. 2006cb500700; No. 973 Program;</note><note>National “863” High‐Tech Research and Development Program of China - No. 2006AA02A408;</note><note>National Natural Science Foundation of China - No. 30570638; No. 30770735; No. 30971035; No. 30900469;</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Glucocerebrosidase Gene L444P mutation is a risk factor for Parkinson's disease in Chinese population</title><author><persName><forename type="first">Qi‐Ying</forename><surname>Sun</surname></persName><roleName type="degree">MD</roleName><note type="biography">The first two authors contributed equally to this work.</note><affiliation>The first two authors contributed equally to this work.</affiliation><affiliation>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China</affiliation></author><author><persName><forename type="first">Ji‐Feng</forename><surname>Guo</surname></persName><roleName type="degree">MD</roleName><note type="biography">The first two authors contributed equally to this work.</note><affiliation>The first two authors contributed equally to this work.</affiliation><affiliation>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China</affiliation><affiliation>Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan, People's Republic of China</affiliation></author><author><persName><forename type="first">Lei</forename><surname>Wang</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China</affiliation></author><author><persName><forename type="first">Ren‐He</forename><surname>Yu</surname></persName><roleName type="degree">PhD</roleName><affiliation>School of Public Health, Central South University, Changsha, Hunan, People's Republic of China</affiliation></author><author><persName><forename type="first">Xing</forename><surname>Zuo</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China</affiliation></author><author><persName><forename type="first">Ling‐Yan</forename><surname>Yao</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China</affiliation></author><author><persName><forename type="first">Qian</forename><surname>Pan</surname></persName><roleName type="degree">PhD</roleName><affiliation>National Lab of Medical Genetics of China, Changsha, Hunan, People's Republic of China</affiliation></author><author><persName><forename type="first">Kun</forename><surname>Xia</surname></persName><roleName type="degree">PhD</roleName><affiliation>National Lab of Medical Genetics of China, Changsha, Hunan, People's Republic of China</affiliation></author><author><persName><forename type="first">Bei‐Sha</forename><surname>Tang</surname></persName><roleName type="degree">MD</roleName><note type="correspondence"><p>Correspondence: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, People's Republic of China</p></note><affiliation>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China</affiliation><affiliation>Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan, People's Republic of China</affiliation><affiliation>National Lab of Medical Genetics of China, Changsha, Hunan, People's Republic of China</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="2010-06-15"></date><biblScope unit="volume">25</biblScope><biblScope unit="issue">8</biblScope><biblScope unit="page" from="1005">1005</biblScope><biblScope unit="page" to="1011">1011</biblScope></imprint></monogr><idno type="istex">16149A7F8E426CD71A6BCB6AF17A7A9D021781F5</idno><idno type="DOI">10.1002/mds.23009</idno><idno type="ArticleID">MDS23009</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2010</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>An association between mutations in the glucocerebrosidase (GBA) gene and Parkinson's disease (PD) has been reported in several populations. We searched for four common GBA mutations (L444P, F213I, R353W, and N370S) in 402 Chinese PD patients and 413 age‐ and sex‐matched controls. In the PD cohort, 11 patients were found carrying a heterozygous GBA mutation and all of them had the L444P mutation. Heterozygous GBA mutations were detected none in controls. The GBA gene L444P mutation was detected at a significantly higher frequency among PD patients (11/402 = 2.74%), when compared with the control group (0/413): P = 0.0007. To evaluate the possible role of the GBA gene L444P mutation in PD in Ashkenazi Jewish and non‐Jewish populations, we conducted a meta‐analysis on the topic. In the Chinese population, the GBA gene L444P mutation was detected at a significantly higher frequency among PD patients, when compared with the control group: Z = 3.83, P = 0.0001, OR = 8.42, confidence interval = 95%, 2.83–25.06. In the non‐Jewish populations, the difference was obviously significant: Z = 5.76, P < 0.00001, OR = 8.82, confidence interval = 95%, 4.21–18.48. The results suggest that the GBA gene L444P mutation appears to be a risk factor for PD in Chinese population. © 2010 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Gaucher disease</term></item><item><term>Parkinson's disease</term></item><item><term>glucocerebrosidase</term></item><item><term>meta‐analysis</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="2009-07-24">Received</change><change when="2009-12-12">Registration</change><change when="2010-06-15">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/16149A7F8E426CD71A6BCB6AF17A7A9D021781F5/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="80"><doi origin="wiley" registered="yes">10.1002/mds.v25:8</doi><numberingGroup><numbering type="journalVolume" number="25">25</numbering><numbering type="journalIssue">8</numbering></numberingGroup><coverDate startDate="2010-06-15">15 June 2010</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="60" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.23009</doi><idGroup><id type="unit" value="MDS23009"></id></idGroup><countGroup><count type="pageTotal" number="7"></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="2009-07-24"></event><event type="manuscriptRevised" date="2009-11-12"></event><event type="manuscriptAccepted" date="2009-12-12"></event><event type="firstOnline" date="2010-02-03"></event><event type="publishedOnlineFinalForm" date="2010-06-09"></event><event type="publishedOnlineAcceptedOrEarlyUnpaginated" date="2010-02-03"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.4.7 mode:FullText source:FullText result:FullText" date="2011-02-24"></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">1005</numbering><numbering type="pageLast">1011</numbering></numberingGroup><correspondenceTo>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, People's Republic of China</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS23009.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="3"></count><count type="tableTotal" number="3"></count><count type="referenceTotal" number="29"></count><count type="wordTotal" number="5374"></count></countGroup><titleGroup><title type="main" xml:lang="en">Glucocerebrosidase Gene L444P mutation is a risk factor for Parkinson's disease in Chinese population<link href="#fn1"></link></title><title type="short" xml:lang="en">GBA Gene Mutations in Chinese PD</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" noteRef="#fn2"><personName><givenNames>Qi‐Ying</givenNames><familyName>Sun</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1 #af2" noteRef="#fn2"><personName><givenNames>Ji‐Feng</givenNames><familyName>Guo</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Lei</givenNames><familyName>Wang</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Ren‐He</givenNames><familyName>Yu</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Xing</givenNames><familyName>Zuo</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Ling‐Yan</givenNames><familyName>Yao</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Qian</givenNames><familyName>Pan</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Kun</givenNames><familyName>Xia</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af1 #af2 #af4" corresponding="yes"><personName><givenNames>Bei‐Sha</givenNames><familyName>Tang</familyName><degrees>MD</degrees></personName><contactDetails><email>bstang7398@yahoo.com.cn</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="CN" type="organization"><unparsedAffiliation>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="CN" type="organization"><unparsedAffiliation>Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan, People's Republic of China</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="CN" type="organization"><unparsedAffiliation>School of Public Health, Central South University, Changsha, Hunan, People's Republic of China</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="CN" type="organization"><unparsedAffiliation>National Lab of Medical Genetics of China, Changsha, Hunan, People's Republic of China</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Gaucher disease</keyword><keyword xml:id="kwd2">Parkinson's disease</keyword><keyword xml:id="kwd3">glucocerebrosidase</keyword><keyword xml:id="kwd4">meta‐analysis</keyword></keywordGroup><fundingInfo><fundingAgency>Major State Basic Research Development Program of China</fundingAgency><fundingNumber>2006cb500700</fundingNumber><fundingNumber>973 Program</fundingNumber></fundingInfo><fundingInfo><fundingAgency>National “863” High‐Tech Research and Development Program of China</fundingAgency><fundingNumber>2006AA02A408</fundingNumber></fundingInfo><fundingInfo><fundingAgency>National Natural Science Foundation of China</fundingAgency><fundingNumber>30570638</fundingNumber><fundingNumber>30770735</fundingNumber><fundingNumber>30971035</fundingNumber><fundingNumber>30900469</fundingNumber></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:mds23009:MDS_23009_sm_Supinfo1"></mediaResource><caption>Supplemental Information.</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23009:MDS_23009_sm_Supinfo2"></mediaResource><caption>Supplemental Information.</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>An association between mutations in the <i>glucocerebrosidase</i> (<i>GBA</i>) gene and Parkinson's disease (PD) has been reported in several populations. We searched for four common <i>GBA</i> mutations (L444P, F213I, R353W, and N370S) in 402 Chinese PD patients and 413 age‐ and sex‐matched controls. In the PD cohort, 11 patients were found carrying a heterozygous <i>GBA</i> mutation and all of them had the L444P mutation. Heterozygous <i>GBA</i> mutations were detected none in controls. The <i>GBA</i> gene L444P mutation was detected at a significantly higher frequency among PD patients (11/402 = 2.74%), when compared with the control group (0/413): <i>P</i> = 0.0007. To evaluate the possible role of the <i>GBA</i> gene L444P mutation in PD in Ashkenazi Jewish and non‐Jewish populations, we conducted a meta‐analysis on the topic. In the Chinese population, the <i>GBA</i> gene L444P mutation was detected at a significantly higher frequency among PD patients, when compared with the control group: <i>Z</i> = 3.83, <i>P</i> = 0.0001, OR = 8.42, confidence interval = 95%, 2.83–25.06. In the non‐Jewish populations, the difference was obviously significant: <i>Z</i> = 5.76, <i>P</i> < 0.00001, OR = 8.82, confidence interval = 95%, 4.21–18.48. The results suggest that the <i>GBA</i> gene L444P mutation appears to be a risk factor for PD in Chinese population. © 2010 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>Potential conflict of interest: Nothing to report.</p></note><note xml:id="fn2"><p>The first two authors contributed equally to this work.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Glucocerebrosidase Gene L444P mutation is a risk factor for Parkinson's disease in Chinese population</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>GBA Gene Mutations in Chinese PD</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Glucocerebrosidase Gene L444P mutation is a risk factor for Parkinson's disease in Chinese population</title></titleInfo><name type="personal"><namePart type="given">Qi‐Ying</namePart><namePart type="family">Sun</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China</affiliation><description>The first two authors contributed equally to this work.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ji‐Feng</namePart><namePart type="family">Guo</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China</affiliation><affiliation>Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan, People's Republic of China</affiliation><description>The first two authors contributed equally to this work.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Lei</namePart><namePart type="family">Wang</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ren‐He</namePart><namePart type="family">Yu</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>School of Public Health, Central South University, Changsha, Hunan, People's Republic of China</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Xing</namePart><namePart type="family">Zuo</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ling‐Yan</namePart><namePart type="family">Yao</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Qian</namePart><namePart type="family">Pan</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>National Lab of Medical Genetics of China, Changsha, Hunan, People's Republic of China</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kun</namePart><namePart type="family">Xia</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>National Lab of Medical Genetics of China, Changsha, Hunan, People's Republic of China</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Bei‐Sha</namePart><namePart type="family">Tang</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China</affiliation><affiliation>Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan, People's Republic of China</affiliation><affiliation>National Lab of Medical Genetics of China, Changsha, Hunan, People's Republic of China</affiliation><description>Correspondence: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, People's Republic of China</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">2010-06-15</dateIssued><dateCaptured encoding="w3cdtf">2009-07-24</dateCaptured><dateValid encoding="w3cdtf">2009-12-12</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">3</extent><extent unit="tables">3</extent><extent unit="references">29</extent><extent unit="words">5374</extent></physicalDescription><abstract lang="en">An association between mutations in the glucocerebrosidase (GBA) gene and Parkinson's disease (PD) has been reported in several populations. We searched for four common GBA mutations (L444P, F213I, R353W, and N370S) in 402 Chinese PD patients and 413 age‐ and sex‐matched controls. In the PD cohort, 11 patients were found carrying a heterozygous GBA mutation and all of them had the L444P mutation. Heterozygous GBA mutations were detected none in controls. The GBA gene L444P mutation was detected at a significantly higher frequency among PD patients (11/402 = 2.74%), when compared with the control group (0/413): P = 0.0007. To evaluate the possible role of the GBA gene L444P mutation in PD in Ashkenazi Jewish and non‐Jewish populations, we conducted a meta‐analysis on the topic. In the Chinese population, the GBA gene L444P mutation was detected at a significantly higher frequency among PD patients, when compared with the control group: Z = 3.83, P = 0.0001, OR = 8.42, confidence interval = 95%, 2.83–25.06. In the non‐Jewish populations, the difference was obviously significant: Z = 5.76, P < 0.00001, OR = 8.82, confidence interval = 95%, 4.21–18.48. The results suggest that the GBA gene L444P mutation appears to be a risk factor for PD in Chinese population. © 2010 Movement Disorder Society</abstract><note type="content">*Potential conflict of interest: Nothing to report.</note><note type="funding">Major State Basic Research Development Program of China - No. 2006cb500700; No. 973 Program; </note><note type="funding">National “863” High‐Tech Research and Development Program of China - No. 2006AA02A408; </note><note type="funding">National Natural Science Foundation of China - No. 30570638; No. 30770735; No. 30971035; No. 30900469; </note><subject lang="en"><genre>Keywords</genre><topic>Gaucher disease</topic><topic>Parkinson's disease</topic><topic>glucocerebrosidase</topic><topic>meta‐analysis</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: Supplemental Information. - Supplemental Information. - </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>2010</date><detail type="volume"><caption>vol.</caption><number>25</number></detail><detail type="issue"><caption>no.</caption><number>8</number></detail><extent unit="pages"><start>1005</start><end>1011</end><total>7</total></extent></part></relatedItem><identifier type="istex">16149A7F8E426CD71A6BCB6AF17A7A9D021781F5</identifier><identifier type="DOI">10.1002/mds.23009</identifier><identifier type="ArticleID">MDS23009</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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