ParkinsonFranceV1, PubMed, Corpus, bibRecord, 001416

CYP2D6 polymorphism and Parkinson's disease susceptibility.

Identifieur interne : 001416 ( PubMed/Corpus ); précédent : 001415; suivant : 001417

CYP2D6 polymorphism and Parkinson's disease susceptibility.

Auteurs : N. Sabbagh ; A. Brice ; D. Marez ; A. Dürr ; M. Legrand ; J M Lo Guidice ; A. Destée ; Y. Agid ; F. Broly

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 1999.

RBID : pubmed:10091614

English descriptors

KwdEn :
- Aged, Case-Control Studies, Chi-Square Distribution, Cytochrome P-450 CYP2D6 (genetics), Family Health, Female, France, Gene Dosage, Genetic Predisposition to Disease (genetics), Genotype, Humans, Male, Middle Aged, Parkinson Disease (genetics), Phenotype, Polymorphism, Genetic (genetics).
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

Links to Exploration step

pubmed:10091614

Le document en format XML

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<author><name sortKey="Sabbagh, N" sort="Sabbagh, N" uniqKey="Sabbagh N" first="N" last="Sabbagh">N. Sabbagh</name>
<affiliation><nlm:affiliation>Laboratoire de Biochimie & Biologie Moléculaire de l'Hôpital Calmette, Centre Hospitalier Régional et Universitaire de Lille, France.</nlm:affiliation>
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<author><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. Brice</name>
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<author><name sortKey="Marez, D" sort="Marez, D" uniqKey="Marez D" first="D" last="Marez">D. Marez</name>
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<author><name sortKey="Durr, A" sort="Durr, A" uniqKey="Durr A" first="A" last="Dürr">A. Dürr</name>
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<author><name sortKey="Legrand, M" sort="Legrand, M" uniqKey="Legrand M" first="M" last="Legrand">M. Legrand</name>
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<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>
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<author><name sortKey="Destee, A" sort="Destee, A" uniqKey="Destee A" first="A" last="Destée">A. Destée</name>
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<author><name sortKey="Agid, Y" sort="Agid, Y" uniqKey="Agid Y" first="Y" last="Agid">Y. Agid</name>
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<author><name sortKey="Broly, F" sort="Broly, F" uniqKey="Broly F" first="F" last="Broly">F. Broly</name>
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<author><name sortKey="Legrand, M" sort="Legrand, M" uniqKey="Legrand M" first="M" last="Legrand">M. Legrand</name>
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<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>
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<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>
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<term>Polymorphism, Genetic</term>
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<term>Case-Control Studies</term>
<term>Chi-Square Distribution</term>
<term>Family Health</term>
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<term>Gene Dosage</term>
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<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>
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<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>
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	La maladie de Parkinson en France (serveur d'exploration)
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La maladie de Parkinson en France (serveur d'exploration)

CYP2D6 polymorphism and Parkinson's disease susceptibility.

CYP2D6 polymorphism and Parkinson's disease susceptibility.

Source :

English descriptors

Abstract

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

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