The dopamine D2 receptor gene is a susceptibility locus for Parkinson's disease.
Identifieur interne : 000199 ( Ncbi/Curation ); précédent : 000198; suivant : 000200The dopamine D2 receptor gene is a susceptibility locus for Parkinson's disease.
Auteurs : R L Oliveri [Italie] ; G. Annesi ; M. Zappia ; D. Civitelli ; E V De Marco ; A A Pasqua ; F. Annesi ; P. Spadafora ; A. Gambardella ; G. Nicoletti ; D. Branca ; M. Caracciolo ; U. Aguglia ; A. QuattroneSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2000.
Descripteurs français
- Wicri :
- geographic : Italie.
English descriptors
- KwdEn :
- Aged, Alleles, Chromosome Mapping, Female, Gene Frequency (genetics), Genetic Predisposition to Disease (genetics), Genotype, Humans, Italy, Linkage Disequilibrium (genetics), Male, Middle Aged, Parkinson Disease (diagnosis), Parkinson Disease (genetics), Polymorphism, Genetic (genetics), Prospective Studies, Receptors, Dopamine D2 (genetics), Risk.
- 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 B 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.
PubMed: 10634251
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Zappia</name></author><author><name sortKey="Civitelli, D" sort="Civitelli, D" uniqKey="Civitelli D" first="D" last="Civitelli">D. Civitelli</name></author><author><name sortKey="De Marco, E V" sort="De Marco, E V" uniqKey="De Marco E" first="E V" last="De Marco">E V De Marco</name></author><author><name sortKey="Pasqua, A A" sort="Pasqua, A A" uniqKey="Pasqua A" first="A A" last="Pasqua">A A Pasqua</name></author><author><name sortKey="Annesi, F" sort="Annesi, F" uniqKey="Annesi F" first="F" last="Annesi">F. Annesi</name></author><author><name sortKey="Spadafora, P" sort="Spadafora, P" uniqKey="Spadafora P" first="P" last="Spadafora">P. Spadafora</name></author><author><name sortKey="Gambardella, A" sort="Gambardella, A" uniqKey="Gambardella A" first="A" last="Gambardella">A. Gambardella</name></author><author><name sortKey="Nicoletti, G" sort="Nicoletti, G" uniqKey="Nicoletti G" first="G" last="Nicoletti">G. 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Annesi</name></author><author><name sortKey="Zappia, M" sort="Zappia, M" uniqKey="Zappia M" first="M" last="Zappia">M. Zappia</name></author><author><name sortKey="Civitelli, D" sort="Civitelli, D" uniqKey="Civitelli D" first="D" last="Civitelli">D. Civitelli</name></author><author><name sortKey="De Marco, E V" sort="De Marco, E V" uniqKey="De Marco E" first="E V" last="De Marco">E V De Marco</name></author><author><name sortKey="Pasqua, A A" sort="Pasqua, A A" uniqKey="Pasqua A" first="A A" last="Pasqua">A A Pasqua</name></author><author><name sortKey="Annesi, F" sort="Annesi, F" uniqKey="Annesi F" first="F" last="Annesi">F. Annesi</name></author><author><name sortKey="Spadafora, P" sort="Spadafora, P" uniqKey="Spadafora P" first="P" last="Spadafora">P. Spadafora</name></author><author><name sortKey="Gambardella, A" sort="Gambardella, A" uniqKey="Gambardella A" first="A" last="Gambardella">A. Gambardella</name></author><author><name sortKey="Nicoletti, G" sort="Nicoletti, G" uniqKey="Nicoletti G" first="G" last="Nicoletti">G. Nicoletti</name></author><author><name sortKey="Branca, D" sort="Branca, D" uniqKey="Branca D" first="D" last="Branca">D. Branca</name></author><author><name sortKey="Caracciolo, M" sort="Caracciolo, M" uniqKey="Caracciolo M" first="M" last="Caracciolo">M. Caracciolo</name></author><author><name sortKey="Aguglia, U" sort="Aguglia, U" uniqKey="Aguglia U" first="U" last="Aguglia">U. Aguglia</name></author><author><name sortKey="Quattrone, A" sort="Quattrone, A" uniqKey="Quattrone A" first="A" last="Quattrone">A. Quattrone</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="2000" type="published">2000</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Alleles</term><term>Chromosome Mapping</term><term>Female</term><term>Gene Frequency (genetics)</term><term>Genetic Predisposition to Disease (genetics)</term><term>Genotype</term><term>Humans</term><term>Italy</term><term>Linkage Disequilibrium (genetics)</term><term>Male</term><term>Middle Aged</term><term>Parkinson Disease (diagnosis)</term><term>Parkinson Disease (genetics)</term><term>Polymorphism, Genetic (genetics)</term><term>Prospective Studies</term><term>Receptors, Dopamine D2 (genetics)</term><term>Risk</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Receptors, Dopamine D2</term></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="Wicri" type="geographic" xml:lang="fr"><term>Italie</term></keywords></textClass></profileDesc></teiHeader><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 B 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></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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