MovDisordV3, Main, Exploration, bibRecord, 004948

The dopamine D2 receptor gene is a susceptibility locus for Parkinson's disease

Identifieur interne : 004948 ( Main/Exploration ); précédent : 004947; suivant : 004949

The dopamine D2 receptor gene is a susceptibility locus for Parkinson's disease

Auteurs : Rosario L. Oliveri [Italie] ; Grazia Annesi [Italie] ; Mario Zappia [Italie] ; Donatella Civitelli [Italie] ; Elvira V. De Marco [Italie] ; Angela A. Pasqua [Italie] ; Ferdinanda Annesi [Italie] ; Patrizia Spadafora [Italie] ; Antonio Gambardella [Italie] ; Giuseppe Nicoletti [Italie] ; Damiano Branca [Italie] ; Manuela Caracciolo [Italie] ; Umberto Aguglia [Italie] ; Aldo Quattrone [Italie]

Source :

Movement Disorders [ 0885-3185 ] ; 2000-01.

RBID : ISTEX:F5D587717C1941473052093F7EFD65AC582535AC

Descripteurs français

Pascal (Inist)
- Adulte, Allèle, Facteur risque, Génotype, Génétique, Locus, Parkinson maladie, Polymorphisme, Récepteur dopaminergique D2.
Wicri :
- geographic : Italie.
- topic : Adulte, Génétique.

English descriptors

KwdEn :
- Adult, Aged, Allele, Alleles, Chromosome Mapping, D2 Dopamine receptor, Dopamine D2 receptor, Female, Gene Frequency (genetics), Genetic Predisposition to Disease (genetics), Genetics, Genotype, Humans, Italy, Linkage Disequilibrium (genetics), Locus, Male, Middle Aged, Parkinson Disease (diagnosis), Parkinson Disease (genetics), Parkinson disease, Parkinson's disease, Polymorphism, Polymorphism association, Polymorphism, Genetic (genetics), Prospective Studies, Receptors, Dopamine D2 (genetics), Risk, Risk factor.
MESH :
- chemical , genetics : Receptors, Dopamine D2.
- geographic : Italy.
- diagnosis : Parkinson Disease.
- genetics : Gene Frequency, Genetic Predisposition to Disease, Linkage Disequilibrium, Parkinson Disease, Polymorphism, Genetic.
- Aged, Alleles, Chromosome Mapping, Female, Genotype, Humans, Male, Middle Aged, Prospective Studies, Risk.

Abstract

The dopamine D2 receptor (DRD2) gene has been proposed as a candidate gene underlying several psychiatric and neurologic disorders. The aim of the present study was to examine if selected polymorphisms in the DRD2 gene are associated with Parkinson's disease (PD). We determined the allelic frequencies for four polymorphisms located in the DRD2 gene in a sample of 135 patients with PD and 202 normal control subjects. No significant difference was observed in the allelic frequencies between patients with PD and control subjects with regard to the ‐141C Ins/Del and the Ser311/Cys311 variants. On the contrary, the A1 allele of the TaqIA polymorphism and the B1 allele of the TaqIB polymorphism were more frequent in patients with PD than in control subjects (control subjects: TaqIA A1 = 14.6%, TaqIB B1 = 10.6%; patients with PD: TaqIA A1 = 20.7%, TaqIB B1 = 17.4%). Patients carrying the A1 allele or the B1 allele had an increased risk of developing PD (TaqIA, odds ratio: 1.71, 95% confidence intervals: 1.08–2.73; TaqIB, odds ratio: 1.83, 95% confidence intervals: 1.12–3.02). The TaqIA and TaqIB polymorphisms were in strong linkage disequilibrium, suggesting that these two polymorphisms convey the same information about the risk of presenting with PD. Genetic variation in the DRD2 gene may influence the risk of developing PD, thus confirming that the DRD2 gene is a susceptibility locus for PD.

Url:

https://api.istex.fr/document/F5D587717C1941473052093F7EFD65AC582535AC/fulltext/pdf

DOI: 10.1002/1531-8257(200001)15:1<120::AID-MDS1019>3.0.CO;2-S

Affiliations:

Italie

Le document en format XML

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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Allele</term>
<term>Alleles</term>
<term>Chromosome Mapping</term>
<term>D2 Dopamine receptor</term>
<term>Dopamine D2 receptor</term>
<term>Female</term>
<term>Gene Frequency (genetics)</term>
<term>Genetic Predisposition to Disease (genetics)</term>
<term>Genetics</term>
<term>Genotype</term>
<term>Humans</term>
<term>Italy</term>
<term>Linkage Disequilibrium (genetics)</term>
<term>Locus</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Parkinson Disease (diagnosis)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson disease</term>
<term>Parkinson's disease</term>
<term>Polymorphism</term>
<term>Polymorphism association</term>
<term>Polymorphism, Genetic (genetics)</term>
<term>Prospective Studies</term>
<term>Receptors, Dopamine D2 (genetics)</term>
<term>Risk</term>
<term>Risk factor</term>
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</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Italy</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Gene Frequency</term>
<term>Genetic Predisposition to Disease</term>
<term>Linkage Disequilibrium</term>
<term>Parkinson Disease</term>
<term>Polymorphism, Genetic</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Aged</term>
<term>Alleles</term>
<term>Chromosome Mapping</term>
<term>Female</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Prospective Studies</term>
<term>Risk</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Adulte</term>
<term>Allèle</term>
<term>Facteur risque</term>
<term>Génotype</term>
<term>Génétique</term>
<term>Locus</term>
<term>Parkinson maladie</term>
<term>Polymorphisme</term>
<term>Récepteur dopaminergique D2</term>
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<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Italie</term>
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<front><div type="abstract" xml:lang="en">The dopamine D2 receptor (DRD2) gene has been proposed as a candidate gene underlying several psychiatric and neurologic disorders. The aim of the present study was to examine if selected polymorphisms in the DRD2 gene are associated with Parkinson's disease (PD). We determined the allelic frequencies for four polymorphisms located in the DRD2 gene in a sample of 135 patients with PD and 202 normal control subjects. No significant difference was observed in the allelic frequencies between patients with PD and control subjects with regard to the ‐141C Ins/Del and the Ser311/Cys311 variants. On the contrary, the A1 allele of the TaqIA polymorphism and the B1 allele of the TaqIB polymorphism were more frequent in patients with PD than in control subjects (control subjects: TaqIA A1 = 14.6%, TaqIB B1 = 10.6%; patients with PD: TaqIA A1 = 20.7%, TaqIB B1 = 17.4%). Patients carrying the A1 allele or the B1 allele had an increased risk of developing PD (TaqIA, odds ratio: 1.71, 95% confidence intervals: 1.08–2.73; TaqIB, odds ratio: 1.83, 95% confidence intervals: 1.12–3.02). The TaqIA and TaqIB polymorphisms were in strong linkage disequilibrium, suggesting that these two polymorphisms convey the same information about the risk of presenting with PD. Genetic variation in the DRD2 gene may influence the risk of developing PD, thus confirming that the DRD2 gene is a susceptibility locus for PD.</div>
</front>
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<name sortKey="De Marco, Elvira V" sort="De Marco, Elvira V" uniqKey="De Marco E" first="Elvira V." last="De Marco">Elvira V. De Marco</name>
<name sortKey="Gambardella, Antonio" sort="Gambardella, Antonio" uniqKey="Gambardella A" first="Antonio" last="Gambardella">Antonio Gambardella</name>
<name sortKey="Gambardella, Antonio" sort="Gambardella, Antonio" uniqKey="Gambardella A" first="Antonio" last="Gambardella">Antonio Gambardella</name>
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<name sortKey="Oliveri, Rosario L" sort="Oliveri, Rosario L" uniqKey="Oliveri R" first="Rosario L." last="Oliveri">Rosario L. Oliveri</name>
<name sortKey="Pasqua, Angela A" sort="Pasqua, Angela A" uniqKey="Pasqua A" first="Angela A." last="Pasqua">Angela A. Pasqua</name>
<name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name>
<name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name>
<name sortKey="Spadafora, Patrizia" sort="Spadafora, Patrizia" uniqKey="Spadafora P" first="Patrizia" last="Spadafora">Patrizia Spadafora</name>
<name sortKey="Zappia, Mario" sort="Zappia, Mario" uniqKey="Zappia M" first="Mario" last="Zappia">Mario Zappia</name>
</country>
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Movement Disorders (revue)

The dopamine D2 receptor gene is a susceptibility locus for Parkinson's disease

The dopamine D2 receptor gene is a susceptibility locus for Parkinson's disease

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	Movement Disorders (revue)
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