CYP2D6 polymorphism and Parkinson's disease susceptibility.
Identifieur interne : 004259 ( PubMed/Checkpoint ); précédent : 004258; suivant : 004260CYP2D6 polymorphism and Parkinson's disease susceptibility.
Auteurs : N. Sabbagh [France] ; A. Brice ; D. Marez ; A. Dürr ; M. Legrand ; J M Lo Guidice ; A. Destée ; Yves Agid [France] ; F. BrolySource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 1999.
Descripteurs français
- Wicri :
- geographic : France.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Cytochrome P-450 CYP2D6.
- geographic : France.
- genetics : Genetic Predisposition to Disease, Parkinson Disease, Polymorphism, Genetic.
- Aged, Case-Control Studies, Chi-Square Distribution, Family Health, Female, Gene Dosage, Genotype, Humans, Male, Middle Aged, Phenotype.
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.
PubMed: 10091614
Affiliations:
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Sabbagh</name><affiliation wicri:level="1"><nlm:affiliation>Laboratoire de Biochimie & Biologie Moléculaire de l'Hôpital Calmette, Centre Hospitalier Régional et Universitaire de Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biochimie & Biologie Moléculaire de l'Hôpital Calmette, Centre Hospitalier Régional et Universitaire de Lille</wicri:regionArea><wicri:noRegion>Centre Hospitalier Régional et Universitaire de Lille</wicri:noRegion><wicri:noRegion>Centre Hospitalier Régional et Universitaire de Lille</wicri:noRegion></affiliation></author><author><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. Brice</name></author><author><name sortKey="Marez, D" sort="Marez, D" uniqKey="Marez D" first="D" last="Marez">D. Marez</name></author><author><name sortKey="Durr, A" sort="Durr, A" uniqKey="Durr A" first="A" last="Dürr">A. Dürr</name></author><author><name sortKey="Legrand, M" sort="Legrand, M" uniqKey="Legrand M" first="M" last="Legrand">M. Legrand</name></author><author><name sortKey="Lo Guidice, J M" sort="Lo Guidice, J M" uniqKey="Lo Guidice J" first="J M" last="Lo Guidice">J M Lo Guidice</name></author><author><name sortKey="Destee, A" sort="Destee, A" uniqKey="Destee A" first="A" last="Destée">A. Destée</name></author><author><name sortKey="Agid, Y" sort="Agid, Y" uniqKey="Agid Y" first="Y" last="Agid">Yves Agid</name><affiliation><country>France</country><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName><orgName type="hospital" n="4">Hôpital de la Salpêtrière</orgName></affiliation></author><author><name sortKey="Broly, F" sort="Broly, F" uniqKey="Broly F" first="F" last="Broly">F. Broly</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="1999" type="published">1999</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Case-Control Studies</term><term>Chi-Square Distribution</term><term>Cytochrome P-450 CYP2D6 (genetics)</term><term>Family Health</term><term>Female</term><term>France</term><term>Gene Dosage</term><term>Genetic Predisposition to Disease (genetics)</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Parkinson Disease (genetics)</term><term>Phenotype</term><term>Polymorphism, Genetic (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Cytochrome P-450 CYP2D6</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>France</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genetic Predisposition to Disease</term><term>Parkinson Disease</term><term>Polymorphism, Genetic</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Case-Control Studies</term><term>Chi-Square Distribution</term><term>Family Health</term><term>Female</term><term>Gene Dosage</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Phenotype</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>France</term></keywords></textClass></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><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">10091614</PMID><DateCreated><Year>1999</Year><Month>06</Month><Day>15</Day></DateCreated><DateCompleted><Year>1999</Year><Month>06</Month><Day>15</Day></DateCompleted><DateRevised><Year>2006</Year><Month>11</Month><Day>15</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>14</Volume><Issue>2</Issue><PubDate><Year>1999</Year><Month>Mar</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>CYP2D6 polymorphism and Parkinson's disease susceptibility.</ArticleTitle><Pagination><MedlinePgn>230-6</MedlinePgn></Pagination><Abstract><AbstractText>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.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Sabbagh</LastName><ForeName>N</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Laboratoire de Biochimie & Biologie Moléculaire de l'Hôpital Calmette, Centre Hospitalier Régional et Universitaire de Lille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brice</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Marez</LastName><ForeName>D</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Dürr</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Legrand</LastName><ForeName>M</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Lo Guidice</LastName><ForeName>J M</ForeName><Initials>JM</Initials></Author><Author ValidYN="Y"><LastName>Destée</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Agid</LastName><ForeName>Y</ForeName><Initials>Y</Initials></Author><Author ValidYN="Y"><LastName>Broly</LastName><ForeName>F</ForeName><Initials>F</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>UNITED STATES</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>EC 1.14.14.1</RegistryNumber><NameOfSubstance UI="D019389">Cytochrome P-450 CYP2D6</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016022">Case-Control Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016009">Chi-Square Distribution</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D019389">Cytochrome P-450 CYP2D6</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D005192">Family Health</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D005602">France</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018628">Gene Dosage</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020022">Genetic Predisposition to Disease</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005838">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010641">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011110">Polymorphism, Genetic</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>1999</Year><Month>3</Month><Day>26</Day></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>1999</Year><Month>3</Month><Day>26</Day><Hour>0</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>1999</Year><Month>3</Month><Day>26</Day><Hour>0</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">10091614</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>France</li></country><region><li>Île-de-France</li></region><settlement><li>Paris</li></settlement><orgName><li>Hôpital de la Salpêtrière</li></orgName></list><tree><noCountry><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. Brice</name><name sortKey="Broly, F" sort="Broly, F" uniqKey="Broly F" first="F" last="Broly">F. Broly</name><name sortKey="Destee, A" sort="Destee, A" uniqKey="Destee A" first="A" last="Destée">A. Destée</name><name sortKey="Durr, A" sort="Durr, A" uniqKey="Durr A" first="A" last="Dürr">A. Dürr</name><name sortKey="Legrand, M" sort="Legrand, M" uniqKey="Legrand M" first="M" last="Legrand">M. Legrand</name><name sortKey="Lo Guidice, J M" sort="Lo Guidice, J M" uniqKey="Lo Guidice J" first="J M" last="Lo Guidice">J M Lo Guidice</name><name sortKey="Marez, D" sort="Marez, D" uniqKey="Marez D" first="D" last="Marez">D. Marez</name></noCountry><country name="France"><noRegion><name sortKey="Sabbagh, N" sort="Sabbagh, N" uniqKey="Sabbagh N" first="N" last="Sabbagh">N. Sabbagh</name></noRegion><name sortKey="Agid, Y" sort="Agid, Y" uniqKey="Agid Y" first="Y" last="Agid">Yves Agid</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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