CYP2D6 Polymorphism and Parkinson's disease susceptibility
Identifieur interne : 000551 ( France/Analysis ); précédent : 000550; suivant : 000552CYP2D6 Polymorphism and Parkinson's disease susceptibility
Auteurs : Nada Sabbagh [France] ; Alexis Brice [France] ; Delphine Marez [France] ; Alexandra Dürr [France] ; Maryline Legrand [France] ; Jean-Marc Lo Guidice [France] ; Alain Destée [France] ; Yves Agid [France] ; Franck Broly [France]Source :
- Movement Disorders [ 0885-3185 ] ; 1999-03.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
- KwdEn :
- Aged, CYP2D6 polymorphism, Case-Control Studies, Chi-Square Distribution, Cytochrome P-450 CYP2D6 (genetics), Cytochrome P450, Exploration, Family Health, Female, France, Gene, Gene Dosage, Genetic Predisposition to Disease (genetics), Genotype, Human, Humans, Male, Middle Aged, Parkinson Disease (genetics), Parkinson disease, Parkinson's disease, Phenotype, Polymerase chain reaction, Polymorphism, Genetic (genetics), Restriction fragment length polymorphism, SSCP, Single strand conformation polymorphism.
- 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.
Url:
DOI: 10.1002/1531-8257(199903)14:2<230::AID-MDS1005>3.0.CO;2-6
Affiliations:
- France
- Nord-Pas-de-Calais, Île-de-France
- Lille, Paris
- Hôpital de la Salpêtrière, Université Lille 2, Université Lille Nord de France
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ISTEX:BBE899DED04E834D1E12DB14F2922F18FD82FEC0Le document en format XML
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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.</div></front></TEI><affiliations><list><country><li>France</li></country><region><li>Nord-Pas-de-Calais</li><li>Île-de-France</li></region><settlement><li>Lille</li><li>Paris</li></settlement><orgName><li>Hôpital de la Salpêtrière</li><li>Université Lille 2</li><li>Université Lille Nord de France</li></orgName></list><tree><country name="France"><noRegion><name sortKey="Sabbagh, Nada" sort="Sabbagh, Nada" uniqKey="Sabbagh N" first="Nada" last="Sabbagh">Nada Sabbagh</name></noRegion><name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Broly, Franck" sort="Broly, Franck" uniqKey="Broly F" first="Franck" last="Broly">Franck Broly</name><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destée">Alain Destée</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Legrand, Maryline" sort="Legrand, Maryline" uniqKey="Legrand M" first="Maryline" last="Legrand">Maryline Legrand</name><name sortKey="Lo Guidice, Jean Arc" sort="Lo Guidice, Jean Arc" uniqKey="Lo Guidice J" first="Jean-Marc" last="Lo Guidice">Jean-Marc Lo Guidice</name><name sortKey="Marez, Delphine" sort="Marez, Delphine" uniqKey="Marez D" first="Delphine" last="Marez">Delphine Marez</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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