Evaluation of four candidate genes encoding proteins of the dopamine pathway in familial and sporadic Parkinson's disease : Evidence for association of a DRD2 allele
Identifieur interne : 004440 ( Main/Curation ); précédent : 004439; suivant : 004441Evaluation of four candidate genes encoding proteins of the dopamine pathway in familial and sporadic Parkinson's disease : Evidence for association of a DRD2 allele
Auteurs : V. Plante-Bordeneuve [France] ; D. Taussig [France] ; F. Thomas [France] ; G. Said [France] ; N. W. Wood [Royaume-Uni] ; C. D. Marsden [Royaume-Uni] ; A. E. Harding [Royaume-Uni]Source :
- Neurology [ 0028-3878 ] ; 1997.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Alleles, Amine oxidase (flavin-containing), Carrier Proteins (genetics), Carrier protein, Comparative study, D2 Dopamine receptor, Dopamine, Dopamine Plasma Membrane Transport Proteins, Exploration, Family Health, Gene, Human, Humans, Membrane Glycoproteins, Membrane Transport Proteins, Monoamine Oxidase (genetics), Nerve Tissue Proteins (genetics), Parkinson Disease (genetics), Parkinson disease, Pathogenesis, Polymerase chain reaction, Polymorphism, Genetic, Receptors, Dopamine D2 (genetics).
- MESH :
Abstract
Article abstract-We assessed the role of four candidate genes encoding proteins involved in dopaminergic transmission, the dopamine transporter (DAT), the dopamine receptor D2 (DRD2), and the main catabolic enzymes of dopamine, monoamine oxidase A (MAOA) and B (MAOB), through allelic association studies in a population of familial and sporadic Parkinson's disease (PD). Using intronic polymorphisms of the four candidate genes, we studied the allelic distributions of the polymorphic markers in 18 affected members, one patient was chosen randomly from each PD family; 60 sporadic PD and 60 healthy unrelated control subjects were matched for sex and for country of origin. All subjects were white. To complete the study of the DRD2, we subsequently tested 40 additional sporadic PD and 40 control patients, who were recruited using a similar procedure. For DAT, MAOA, MAOB polymorphisms, similar allelic frequencies were present in familial, sporadic PD and control patients. In contrast, at the DRD2 locus, the overall allelic distribution was significantly different in the sporadic PD ( p < 0.01) and in the familial PD groups ( p < 0.05), each was compared with the controls. The odd ratios were significant ( p < 0.01) in sporadic PD and in familial PD for allele 3 with respective values of 1.84 (95% CI, 1.23-2.74) and 2.83 (95% CI, 1.32-6.08). Individuals who were homozygous for allele 3 were 2.3 times more frequent in the sporadic PD than in controls. Results suggest that DRD2, but not DAT, MAOA and MAOB, might be a genetic determinant of PD in the population tested.
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Pascal:97-0355689Le document en format XML
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<term>Carrier Proteins (genetics)</term>
<term>Carrier protein</term>
<term>Comparative study</term>
<term>D2 Dopamine receptor</term>
<term>Dopamine</term>
<term>Dopamine Plasma Membrane Transport Proteins</term>
<term>Exploration</term>
<term>Family Health</term>
<term>Gene</term>
<term>Human</term>
<term>Humans</term>
<term>Membrane Glycoproteins</term>
<term>Membrane Transport Proteins</term>
<term>Monoamine Oxidase (genetics)</term>
<term>Nerve Tissue Proteins (genetics)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson disease</term>
<term>Pathogenesis</term>
<term>Polymerase chain reaction</term>
<term>Polymorphism, Genetic</term>
<term>Receptors, Dopamine D2 (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Carrier Proteins</term>
<term>Monoamine Oxidase</term>
<term>Nerve Tissue Proteins</term>
<term>Receptors, Dopamine D2</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Alleles</term>
<term>Dopamine Plasma Membrane Transport Proteins</term>
<term>Family Health</term>
<term>Humans</term>
<term>Membrane Glycoproteins</term>
<term>Membrane Transport Proteins</term>
<term>Polymorphism, Genetic</term>
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<term>Réaction chaîne polymérase</term>
<term>Gène</term>
<term>Amine oxidase (flavin-containing)</term>
<term>Récepteur dopaminergique D2</term>
<term>Protéine transport</term>
<term>Exploration</term>
<term>Pathogénie</term>
<term>Homme</term>
<term>Dopamine</term>
<term>Etude comparative</term>
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<front><div type="abstract" xml:lang="en">Article abstract-We assessed the role of four candidate genes encoding proteins involved in dopaminergic transmission, the dopamine transporter (DAT), the dopamine receptor D2 (DRD2), and the main catabolic enzymes of dopamine, monoamine oxidase A (MAOA) and B (MAOB), through allelic association studies in a population of familial and sporadic Parkinson's disease (PD). Using intronic polymorphisms of the four candidate genes, we studied the allelic distributions of the polymorphic markers in 18 affected members, one patient was chosen randomly from each PD family; 60 sporadic PD and 60 healthy unrelated control subjects were matched for sex and for country of origin. All subjects were white. To complete the study of the DRD2, we subsequently tested 40 additional sporadic PD and 40 control patients, who were recruited using a similar procedure. For DAT, MAOA, MAOB polymorphisms, similar allelic frequencies were present in familial, sporadic PD and control patients. In contrast, at the DRD2 locus, the overall allelic distribution was significantly different in the sporadic PD ( p < 0.01) and in the familial PD groups ( p < 0.05), each was compared with the controls. The odd ratios were significant ( p < 0.01) in sporadic PD and in familial PD for allele 3 with respective values of 1.84 (95% CI, 1.23-2.74) and 2.83 (95% CI, 1.32-6.08). Individuals who were homozygous for allele 3 were 2.3 times more frequent in the sporadic PD than in controls. Results suggest that DRD2, but not DAT, MAOA and MAOB, might be a genetic determinant of PD in the population tested.</div>
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<placeName><settlement type="city">Orsay</settlement>
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<author><name sortKey="Marsden, C D" sort="Marsden, C D" uniqKey="Marsden C" first="C. D." last="Marsden">C. D. Marsden</name>
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<s2>London</s2>
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<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
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<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
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<author><name sortKey="Harding, A E" sort="Harding, A E" uniqKey="Harding A" first="A. E." last="Harding">A. E. Harding</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Neurogenetics section, University Department of Clinical Neurology, Institute of Neurology, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
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<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
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<title level="j" type="abbreviated">Neurology</title>
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<term>Carrier protein</term>
<term>Comparative study</term>
<term>D2 Dopamine receptor</term>
<term>Dopamine</term>
<term>Exploration</term>
<term>Gene</term>
<term>Human</term>
<term>Parkinson disease</term>
<term>Pathogenesis</term>
<term>Polymerase chain reaction</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Parkinson maladie</term>
<term>Réaction chaîne polymérase</term>
<term>Gène</term>
<term>Amine oxidase (flavin-containing)</term>
<term>Récepteur dopaminergique D2</term>
<term>Protéine transport</term>
<term>Exploration</term>
<term>Pathogénie</term>
<term>Homme</term>
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<front><div type="abstract" xml:lang="en">Article abstract-We assessed the role of four candidate genes encoding proteins involved in dopaminergic transmission, the dopamine transporter (DAT), the dopamine receptor D2 (DRD2), and the main catabolic enzymes of dopamine, monoamine oxidase A (MAOA) and B (MAOB), through allelic association studies in a population of familial and sporadic Parkinson's disease (PD). Using intronic polymorphisms of the four candidate genes, we studied the allelic distributions of the polymorphic markers in 18 affected members, one patient was chosen randomly from each PD family; 60 sporadic PD and 60 healthy unrelated control subjects were matched for sex and for country of origin. All subjects were white. To complete the study of the DRD2, we subsequently tested 40 additional sporadic PD and 40 control patients, who were recruited using a similar procedure. For DAT, MAOA, MAOB polymorphisms, similar allelic frequencies were present in familial, sporadic PD and control patients. In contrast, at the DRD2 locus, the overall allelic distribution was significantly different in the sporadic PD ( p < 0.01) and in the familial PD groups ( p < 0.05), each was compared with the controls. The odd ratios were significant ( p < 0.01) in sporadic PD and in familial PD for allele 3 with respective values of 1.84 (95% CI, 1.23-2.74) and 2.83 (95% CI, 1.32-6.08). Individuals who were homozygous for allele 3 were 2.3 times more frequent in the sporadic PD than in controls. Results suggest that DRD2, but not DAT, MAOA and MAOB, might be a genetic determinant of PD in the population tested.</div>
</front>
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<affiliation wicri:level="4"><nlm:affiliation>Service de Neurologie, Centre Hospitalier Universitaire de Bicêtre, Université Paris XI, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Neurologie, Centre Hospitalier Universitaire de Bicêtre, Université Paris XI</wicri:regionArea>
<wicri:noRegion>Université Paris XI</wicri:noRegion>
<placeName><settlement type="city">Orsay</settlement>
<region type="region" nuts="2">Île-de-France</region>
</placeName>
<orgName type="university">Université Paris-Sud</orgName>
</affiliation>
</author>
<author><name sortKey="Taussig, D" sort="Taussig, D" uniqKey="Taussig D" first="D" last="Taussig">D. Taussig</name>
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</author>
<author><name sortKey="Said, G" sort="Said, G" uniqKey="Said G" first="G" last="Said">G. Said</name>
</author>
<author><name sortKey="Wood, N W" sort="Wood, N W" uniqKey="Wood N" first="N W" last="Wood">N W Wood</name>
</author>
<author><name sortKey="Marsden, C D" sort="Marsden, C D" uniqKey="Marsden C" first="C D" last="Marsden">C D Marsden</name>
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<author><name sortKey="Harding, A E" sort="Harding, A E" uniqKey="Harding A" first="A E" last="Harding">A E Harding</name>
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<author><name sortKey="Plante Bordeneuve, V" sort="Plante Bordeneuve, V" uniqKey="Plante Bordeneuve V" first="V" last="Planté-Bordeneuve">V. Planté-Bordeneuve</name>
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<placeName><settlement type="city">Orsay</settlement>
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<author><name sortKey="Taussig, D" sort="Taussig, D" uniqKey="Taussig D" first="D" last="Taussig">D. Taussig</name>
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<author><name sortKey="Thomas, F" sort="Thomas, F" uniqKey="Thomas F" first="F" last="Thomas">F. Thomas</name>
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</author>
<author><name sortKey="Marsden, C D" sort="Marsden, C D" uniqKey="Marsden C" first="C D" last="Marsden">C D Marsden</name>
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<author><name sortKey="Harding, A E" sort="Harding, A E" uniqKey="Harding A" first="A E" last="Harding">A E Harding</name>
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<series><title level="j">Neurology</title>
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<term>Carrier Proteins (genetics)</term>
<term>Dopamine Plasma Membrane Transport Proteins</term>
<term>Family Health</term>
<term>Humans</term>
<term>Membrane Glycoproteins</term>
<term>Membrane Transport Proteins</term>
<term>Monoamine Oxidase (genetics)</term>
<term>Nerve Tissue Proteins (genetics)</term>
<term>Parkinson Disease (genetics)</term>
<term>Polymorphism, Genetic</term>
<term>Receptors, Dopamine D2 (genetics)</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Carrier Proteins</term>
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</keywords>
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</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Alleles</term>
<term>Dopamine Plasma Membrane Transport Proteins</term>
<term>Family Health</term>
<term>Humans</term>
<term>Membrane Glycoproteins</term>
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<front><div type="abstract" xml:lang="en">We assessed the role of four candidate genes encoding proteins involved in dopaminergic transmission, the dopamine transporter (DAT), the dopamine receptor D2 (DRD2), and the main catabolic enzymes of dopamine, monoamine oxidase A (MAOA) and B (MAOB), through allelic association studies in a population of familial and sporadic Parkinson's disease (PD). Using intronic polymorphisms of the four candidate genes, we studied the allelic distributions of the polymorphic markers in 18 affected members, one patient was chosen randomly from each PD family; 60 sporadic PD and 60 healthy unrelated control subjects were matched for sex and for country of origin. All subjects were white. To complete the study of the DRD2, we subsequently tested 40 additional sporadic PD and 40 control patients, who were recruited using a similar procedure. For DAT, MAOA, MAOB polymorphisms, similar allelic frequencies were present in familial, sporadic PD and control patients. In contrast, at the DRD2 locus, the overall allelic distribution was significantly different in the sporadic PD (p < 0.01) and in the familial PD groups (p < 0.05), each was compared with the controls. The odd ratios were significant (p < 0.01) in sporadic PD and in familial PD for allele 3 with respective values of 1.84 (95% CI, 1.23-2.74) and 2.83 (95% CI, 1.32-6.08). Individuals who were homozygous for allele 3 were 2.3 times more frequent in the sporadic PD than in controls. Results suggest that DRD2, but not DAT, MAOA and MAOB, might be a genetic determinant of PD in the population tested.</div>
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