CYP2D6 Polymorphism and Parkinson's disease susceptibility
Identifieur interne : 000C11 ( Istex/Corpus ); précédent : 000C10; suivant : 000C12CYP2D6 Polymorphism and Parkinson's disease susceptibility
Auteurs : Nada Sabbagh ; Alexis Brice ; Delphine Marez ; Alexandra Dürr ; Maryline Legrand ; Jean-Marc Lo Guidice ; Alain Destée ; Yves Agid ; Franck BrolySource :
- Movement Disorders [ 0885-3185 ] ; 1999-03.
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- KwdEn :
Abstract
Following the recent identification of multiple novel mutations and alleles of the cytochrome P450 CYP2D6 gene which cause decreased, increased, or absent enzyme activity, we re‐examined the controversial hypothesis of a role of the CYP2D6 polymorphism in Parkinson's disease (PD) susceptibility. For this purpose, a strategy based on PCR‐SSCP and RFLP analyses allowing the detection of all known CYP2D6 alleles was performed in DNA from 109 patients with sporadic PD. This strategy was also applied to DNA from 68 members of PD families including 18 affected and 50 unaffected members. Seventeen mutations occurring alone or in various combination on 14 alleles of CYP2D6 have been identified in patients with sporadic PD. Moreover, 12 mutations and nine alleles of the gene have been characterized in members of PD families. No significant difference was observed when the distribution of mutations and alleles of CYP2D6 was compared between the PD patients and 514 control subjects previously analyzed using the same strategy. There was also no difference in the distribution of phenotypes predicted from genotypes between both groups. In addition, when the distribution of CYP2D6 genotypes was compared, no difference between affected and unaffected members of PD families was observed. These data indicate that CYP2D6 polymorphism is not a susceptibility factor to PD.
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DOI: 10.1002/1531-8257(199903)14:2<230::AID-MDS1005>3.0.CO;2-6
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ISTEX:BBE899DED04E834D1E12DB14F2922F18FD82FEC0Le document en format XML
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>John Wiley & Sons, Inc.</publisher><pubPlace>New York</pubPlace><date type="published" when="1999-03">1999-03</date><biblScope unit="vol">14</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="230">230</biblScope><biblScope unit="page" to="236">236</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">BBE899DED04E834D1E12DB14F2922F18FD82FEC0</idno><idno type="DOI">10.1002/1531-8257(199903)14:2<230::AID-MDS1005>3.0.CO;2-6</idno><idno type="ArticleID">MDS1005</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>CYP2D6 polymorphism</term><term>Parkinson's disease</term><term>SSCP</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Following the recent identification of multiple novel mutations and alleles of the cytochrome P450 CYP2D6 gene which cause decreased, increased, or absent enzyme activity, we re‐examined the controversial hypothesis of a role of the CYP2D6 polymorphism in Parkinson's disease (PD) susceptibility. For this purpose, a strategy based on PCR‐SSCP and RFLP analyses allowing the detection of all known CYP2D6 alleles was performed in DNA from 109 patients with sporadic PD. This strategy was also applied to DNA from 68 members of PD families including 18 affected and 50 unaffected members. Seventeen mutations occurring alone or in various combination on 14 alleles of CYP2D6 have been identified in patients with sporadic PD. Moreover, 12 mutations and nine alleles of the gene have been characterized in members of PD families. No significant difference was observed when the distribution of mutations and alleles of CYP2D6 was compared between the PD patients and 514 control subjects previously analyzed using the same strategy. There was also no difference in the distribution of phenotypes predicted from genotypes between both groups. In addition, when the distribution of CYP2D6 genotypes was compared, no difference between affected and unaffected members of PD families was observed. These data indicate that CYP2D6 polymorphism is not a susceptibility factor to PD.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Nada Sabbagh DPh</name><affiliations><json:string>Laboratoire de Biochimie & Biologie Moléculaire de l'Hôpital Calmette, Lille, France</json:string></affiliations></json:item><json:item><name>Alexis Brice MD, PhD</name><affiliations><json:string>Laboratoire de Médecine Expérimentale and Fédération de Neurologie, Hôpital de la Salpêtrière, Bd. de l'Hôpital, Paris, France</json:string></affiliations></json:item><json:item><name>Delphine Marez DPh</name><affiliations><json:string>Laboratoire de Biochimie & Biologie Moléculaire de l'Hôpital Calmette, Lille, France</json:string></affiliations></json:item><json:item><name>Alexandra Dürr MD</name><affiliations><json:string>Laboratoire de Médecine Expérimentale and Fédération de Neurologie, Hôpital de la Salpêtrière, Bd. de l'Hôpital, Paris, France</json:string></affiliations></json:item><json:item><name>Maryline Legrand DPh</name><affiliations><json:string>Laboratoire de Biochimie & Biologie Moléculaire de l'Hôpital Calmette, Lille, France</json:string></affiliations></json:item><json:item><name>Jean‐Marc Lo Guidice PhD</name><affiliations><json:string>Laboratoire de Biochimie & Biologie Moléculaire de l'Hôpital Calmette, Lille, France</json:string></affiliations></json:item><json:item><name>Alain Destée MD</name><affiliations><json:string>Service de Neurologie A, Centre Hospitalier Régional et Universitaire de Lille, Lille, France</json:string></affiliations></json:item><json:item><name>Yves Agid MD, PhD</name><affiliations><json:string>Laboratoire de Médecine Expérimentale and Fédération de Neurologie, Hôpital de la Salpêtrière, Bd. de l'Hôpital, Paris, France</json:string></affiliations></json:item><json:item><name>Franck Broly MD, PhD</name><affiliations><json:string>Laboratoire de Biochimie & Biologie Moléculaire de l'Hôpital Calmette, Lille, France</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>CYP2D6 polymorphism</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>SSCP</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Parkinson's disease</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Following the recent identification of multiple novel mutations and alleles of the cytochrome P450 CYP2D6 gene which cause decreased, increased, or absent enzyme activity, we re‐examined the controversial hypothesis of a role of the CYP2D6 polymorphism in Parkinson's disease (PD) susceptibility. For this purpose, a strategy based on PCR‐SSCP and RFLP analyses allowing the detection of all known CYP2D6 alleles was performed in DNA from 109 patients with sporadic PD. This strategy was also applied to DNA from 68 members of PD families including 18 affected and 50 unaffected members. Seventeen mutations occurring alone or in various combination on 14 alleles of CYP2D6 have been identified in patients with sporadic PD. Moreover, 12 mutations and nine alleles of the gene have been characterized in members of PD families. No significant difference was observed when the distribution of mutations and alleles of CYP2D6 was compared between the PD patients and 514 control subjects previously analyzed using the same strategy. There was also no difference in the distribution of phenotypes predicted from genotypes between both groups. In addition, when the distribution of CYP2D6 genotypes was compared, no difference between affected and unaffected members of PD families was observed. These data indicate that CYP2D6 polymorphism is not a susceptibility factor to PD.</abstract><qualityIndicators><score>6.89</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 792 pts (letter)</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1374</abstractCharCount><pdfWordCount>4382</pdfWordCount><pdfCharCount>28733</pdfCharCount><pdfPageCount>7</pdfPageCount><abstractWordCount>209</abstractWordCount></qualityIndicators><title>CYP2D6 Polymorphism and Parkinson's disease susceptibility</title><genre><json:string>Serial article</json:string></genre><host><volume>14</volume><pages><total>7</total><last>236</last><first>230</first></pages><issn><json:string>0885-3185</json:string></issn><issue>2</issue><subject><json:item><value>Article</value></json:item></subject><genre></genre><language><json:string>unknown</json:string></language><title>Movement Disorders</title><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi></host><publicationDate>1999</publicationDate><copyrightDate>1999</copyrightDate><doi><json:string>10.1002/1531-8257(199903)14:2>230::AID-MDS1005>3.0.CO;2-6</json:string></doi><id>BBE899DED04E834D1E12DB14F2922F18FD82FEC0</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/BBE899DED04E834D1E12DB14F2922F18FD82FEC0/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/BBE899DED04E834D1E12DB14F2922F18FD82FEC0/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/BBE899DED04E834D1E12DB14F2922F18FD82FEC0/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">CYP2D6 Polymorphism and Parkinson's disease susceptibility</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>John Wiley & Sons, Inc.</publisher><pubPlace>New York</pubPlace><availability><p>John Wiley & Sons, Inc.</p></availability><date>1999</date></publicationStmt><notesStmt><note>Centre Hospitalier Régional et Universitaire de Lille</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">CYP2D6 Polymorphism and Parkinson's disease susceptibility</title><author><persName><forename type="first">Nada</forename><surname>Sabbagh</surname><roleName type="degree">DPh</roleName></persName><affiliation>Laboratoire de Biochimie & Biologie Moléculaire de l'Hôpital Calmette, Lille, France</affiliation></author><author><persName><forename type="first">Alexis</forename><surname>Brice</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Laboratoire de Médecine Expérimentale and Fédération de Neurologie, Hôpital de la Salpêtrière, Bd. de l'Hôpital, Paris, France</affiliation></author><author><persName><forename type="first">Delphine</forename><surname>Marez</surname><roleName type="degree">DPh</roleName></persName><affiliation>Laboratoire de Biochimie & Biologie Moléculaire de l'Hôpital Calmette, Lille, France</affiliation></author><author><persName><forename type="first">Alexandra</forename><surname>Dürr</surname><roleName type="degree">MD</roleName></persName><affiliation>Laboratoire de Médecine Expérimentale and Fédération de Neurologie, Hôpital de la Salpêtrière, Bd. de l'Hôpital, Paris, France</affiliation></author><author><persName><forename type="first">Maryline</forename><surname>Legrand</surname><roleName type="degree">DPh</roleName></persName><affiliation>Laboratoire de Biochimie & Biologie Moléculaire de l'Hôpital Calmette, Lille, France</affiliation></author><author><persName><forename type="first">Jean‐Marc</forename><surname>Lo Guidice</surname><roleName type="degree">PhD</roleName></persName><affiliation>Laboratoire de Biochimie & Biologie Moléculaire de l'Hôpital Calmette, Lille, France</affiliation></author><author><persName><forename type="first">Alain</forename><surname>Destée</surname><roleName type="degree">MD</roleName></persName><affiliation>Service de Neurologie A, Centre Hospitalier Régional et Universitaire de Lille, Lille, France</affiliation></author><author><persName><forename type="first">Yves</forename><surname>Agid</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Laboratoire de Médecine Expérimentale and Fédération de Neurologie, Hôpital de la Salpêtrière, Bd. de l'Hôpital, Paris, France</affiliation></author><author><persName><forename type="first">Franck</forename><surname>Broly</surname><roleName type="degree">MD, PhD</roleName></persName><note type="correspondence"><p>Correspondence: Laboratoire de Biochimie & Biologie Moléculaire, Hôpital Calmette, Centre Hospitalier Régional et Universitaire de Lille, Bd. du Pr. J. Leclercq, 59037 Lille Cédex, France</p></note><affiliation>Laboratoire de Biochimie & Biologie Moléculaire de l'Hôpital Calmette, Lille, France</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. 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For this purpose, a strategy based on PCR‐SSCP and RFLP analyses allowing the detection of all known CYP2D6 alleles was performed in DNA from 109 patients with sporadic PD. This strategy was also applied to DNA from 68 members of PD families including 18 affected and 50 unaffected members. Seventeen mutations occurring alone or in various combination on 14 alleles of CYP2D6 have been identified in patients with sporadic PD. Moreover, 12 mutations and nine alleles of the gene have been characterized in members of PD families. No significant difference was observed when the distribution of mutations and alleles of CYP2D6 was compared between the PD patients and 514 control subjects previously analyzed using the same strategy. There was also no difference in the distribution of phenotypes predicted from genotypes between both groups. In addition, when the distribution of CYP2D6 genotypes was compared, no difference between affected and unaffected members of PD families was observed. These data indicate that CYP2D6 polymorphism is not a susceptibility factor to PD.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>CYP2D6 polymorphism</term></item><item><term>SSCP</term></item><item><term>Parkinson's disease</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="1997-12-15">Received</change><change when="1998-09-18">Registration</change><change when="1999-03">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/BBE899DED04E834D1E12DB14F2922F18FD82FEC0/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>John Wiley & Sons, Inc.</publisherName><publisherLoc>New York</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="subtitle">Official Journal of the Movement Disorder Society</title><title type="short">Mov. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="20"><doi origin="wiley" registered="yes">10.1002/1531-8257(199903)14:2<>1.0.CO;2-P</doi><numberingGroup><numbering type="journalVolume" number="14">14</numbering><numbering type="journalIssue">2</numbering></numberingGroup><coverDate startDate="1999-03">March 1999</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="5" status="forIssue"><doi origin="wiley" registered="yes">10.1002/1531-8257(199903)14:2<230::AID-MDS1005>3.0.CO;2-6</doi><idGroup><id type="unit" value="MDS1005"></id></idGroup><countGroup><count type="pageTotal" number="7"></count></countGroup><titleGroup><title type="articleCategory">Article</title><title type="tocHeading1">Articles</title></titleGroup><copyright ownership="thirdParty">Copyright © 1999 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="1997-12-15"></event><event type="manuscriptRevised" date="1998-03-06"></event><event type="manuscriptAccepted" date="1998-09-18"></event><event type="firstOnline" date="2001-01-17"></event><event type="publishedOnlineFinalForm" date="2001-01-17"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.2 mode:FullText source:HeaderRef result:HeaderRef" date="2010-03-04"></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">230</numbering><numbering type="pageLast">236</numbering></numberingGroup><correspondenceTo>Laboratoire de Biochimie & Biologie Moléculaire, Hôpital Calmette, Centre Hospitalier Régional et Universitaire de Lille, Bd. du Pr. J. Leclercq, 59037 Lille Cédex, France</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS1005.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="0"></count><count type="tableTotal" number="4"></count><count type="referenceTotal" number="42"></count><count type="wordTotal" number="4173"></count></countGroup><titleGroup><title type="main" xml:lang="en"><i>CYP2D6</i> Polymorphism and Parkinson's disease susceptibility</title><title type="short" xml:lang="en"><fi>CYP2D6</fi> Polymorphism in Parkinson's Disease</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Nada</givenNames><familyName>Sabbagh</familyName><degrees>DPh</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Alexis</givenNames><familyName>Brice</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Delphine</givenNames><familyName>Marez</familyName><degrees>DPh</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Alexandra</givenNames><familyName>Dürr</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Maryline</givenNames><familyName>Legrand</familyName><degrees>DPh</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Jean‐Marc</givenNames><familyName>Lo Guidice</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Alain</givenNames><familyName>Destée</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Yves</givenNames><familyName>Agid</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Franck</givenNames><familyName>Broly</familyName><degrees>MD, PhD</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="FR" type="organization"><unparsedAffiliation>Laboratoire de Biochimie & Biologie Moléculaire de l'Hôpital Calmette, Lille, France</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="FR" type="organization"><unparsedAffiliation>Service de Neurologie A, Centre Hospitalier Régional et Universitaire de Lille, Lille, France</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="FR" type="organization"><unparsedAffiliation>Laboratoire de Médecine Expérimentale and Fédération de Neurologie, Hôpital de la Salpêtrière, Bd. de l'Hôpital, Paris, France</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1"><i>CYP2D6</i> polymorphism</keyword><keyword xml:id="kwd2">SSCP</keyword><keyword xml:id="kwd3">Parkinson's disease</keyword></keywordGroup><fundingInfo><fundingAgency>Centre Hospitalier Régional et Universitaire de Lille</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Following the recent identification of multiple novel mutations and alleles of the cytochrome P450 CYP2D6 gene which cause decreased, increased, or absent enzyme activity, we re‐examined the controversial hypothesis of a role of the <i>CYP2D6</i> polymorphism in Parkinson's disease (PD) susceptibility. For this purpose, a strategy based on PCR‐SSCP and RFLP analyses allowing the detection of all known <i>CYP2D6</i> alleles was performed in DNA from 109 patients with sporadic PD. This strategy was also applied to DNA from 68 members of PD families including 18 affected and 50 unaffected members. Seventeen mutations occurring alone or in various combination on 14 alleles of <i>CYP2D6</i> have been identified in patients with sporadic PD. Moreover, 12 mutations and nine alleles of the gene have been characterized in members of PD families. No significant difference was observed when the distribution of mutations and alleles of <i>CYP2D6</i> was compared between the PD patients and 514 control subjects previously analyzed using the same strategy. There was also no difference in the distribution of phenotypes predicted from genotypes between both groups. In addition, when the distribution of<i> CYP2D6</i> genotypes was compared, no difference between affected and unaffected members of PD families was observed. These data indicate that <i>CYP2D6</i> polymorphism is not a susceptibility factor to PD.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 4-12-2015--><mods version="3.6"><titleInfo lang="en"><title>CYP2D6 Polymorphism and Parkinson's disease susceptibility</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>CYP2D6 Polymorphism in Parkinson's Disease</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Polymorphism and Parkinson's disease susceptibility</title></titleInfo><name type="personal"><namePart type="given">Nada</namePart><namePart type="family">Sabbagh</namePart><namePart type="termsOfAddress">DPh</namePart><affiliation>Laboratoire de Biochimie & Biologie Moléculaire de l'Hôpital Calmette, Lille, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alexis</namePart><namePart type="family">Brice</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Laboratoire de Médecine Expérimentale and Fédération de Neurologie, Hôpital de la Salpêtrière, Bd. de l'Hôpital, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Delphine</namePart><namePart type="family">Marez</namePart><namePart type="termsOfAddress">DPh</namePart><affiliation>Laboratoire de Biochimie & Biologie Moléculaire de l'Hôpital Calmette, Lille, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alexandra</namePart><namePart type="family">Dürr</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Laboratoire de Médecine Expérimentale and Fédération de Neurologie, Hôpital de la Salpêtrière, Bd. de l'Hôpital, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Maryline</namePart><namePart type="family">Legrand</namePart><namePart type="termsOfAddress">DPh</namePart><affiliation>Laboratoire de Biochimie & Biologie Moléculaire de l'Hôpital Calmette, Lille, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jean‐Marc</namePart><namePart type="family">Lo Guidice</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Laboratoire de Biochimie & Biologie Moléculaire de l'Hôpital Calmette, Lille, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alain</namePart><namePart type="family">Destée</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Service de Neurologie A, Centre Hospitalier Régional et Universitaire de Lille, Lille, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Yves</namePart><namePart type="family">Agid</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Laboratoire de Médecine Expérimentale and Fédération de Neurologie, Hôpital de la Salpêtrière, Bd. de l'Hôpital, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Franck</namePart><namePart type="family">Broly</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Laboratoire de Biochimie & Biologie Moléculaire de l'Hôpital Calmette, Lille, France</affiliation><description>Correspondence: Laboratoire de Biochimie & Biologie Moléculaire, Hôpital Calmette, Centre Hospitalier Régional et Universitaire de Lille, Bd. du Pr. J. Leclercq, 59037 Lille Cédex, France</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>John Wiley & Sons, Inc.</publisher><place><placeTerm type="text">New York</placeTerm></place><dateIssued encoding="w3cdtf">1999-03</dateIssued><dateCaptured encoding="w3cdtf">1997-12-15</dateCaptured><dateValid encoding="w3cdtf">1998-09-18</dateValid><copyrightDate encoding="w3cdtf">1999</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="tables">4</extent><extent unit="references">42</extent><extent unit="words">4173</extent></physicalDescription><abstract lang="en">Following the recent identification of multiple novel mutations and alleles of the cytochrome P450 CYP2D6 gene which cause decreased, increased, or absent enzyme activity, we re‐examined the controversial hypothesis of a role of the CYP2D6 polymorphism in Parkinson's disease (PD) susceptibility. For this purpose, a strategy based on PCR‐SSCP and RFLP analyses allowing the detection of all known CYP2D6 alleles was performed in DNA from 109 patients with sporadic PD. This strategy was also applied to DNA from 68 members of PD families including 18 affected and 50 unaffected members. Seventeen mutations occurring alone or in various combination on 14 alleles of CYP2D6 have been identified in patients with sporadic PD. Moreover, 12 mutations and nine alleles of the gene have been characterized in members of PD families. No significant difference was observed when the distribution of mutations and alleles of CYP2D6 was compared between the PD patients and 514 control subjects previously analyzed using the same strategy. There was also no difference in the distribution of phenotypes predicted from genotypes between both groups. In addition, when the distribution of CYP2D6 genotypes was compared, no difference between affected and unaffected members of PD families was observed. These data indicate that CYP2D6 polymorphism is not a susceptibility factor to PD.</abstract><note type="funding">Centre Hospitalier Régional et Universitaire de Lille</note><subject lang="en"><genre>Keywords</genre><topic>CYP2D6 polymorphism</topic><topic>SSCP</topic><topic>Parkinson's disease</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title><subTitle>Official Journal of the Movement Disorder Society</subTitle></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><subject><genre>article category</genre><topic>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>1999</date><detail type="volume"><caption>vol.</caption><number>14</number></detail><detail type="issue"><caption>no.</caption><number>2</number></detail><extent unit="pages"><start>230</start><end>236</end><total>7</total></extent></part></relatedItem><identifier type="istex">BBE899DED04E834D1E12DB14F2922F18FD82FEC0</identifier><identifier type="DOI">10.1002/1531-8257(199903)14:2<230::AID-MDS1005>3.0.CO;2-6</identifier><identifier type="ArticleID">MDS1005</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 1999 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>John Wiley & Sons, Inc.</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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