Association of a polymorphism in the dopamine-transporter gene with Parkinson's disease.
Identifieur interne : 004D89 ( Ncbi/Curation ); précédent : 004D88; suivant : 004D90Association of a polymorphism in the dopamine-transporter gene with Parkinson's disease.
Auteurs : D G Le Couteur [Australie] ; P W Leighton ; S J Mccann ; S M PondSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 1997.
English descriptors
- KwdEn :
- Age of Onset, Aged, Alleles, Carrier Proteins (genetics), Case-Control Studies, Chi-Square Distribution, Confidence Intervals, Disease Susceptibility, Dopamine Plasma Membrane Transport Proteins, Female, Gene Frequency, Genotype, Humans, Male, Membrane Glycoproteins, Membrane Transport Proteins, Nerve Tissue Proteins, Odds Ratio, Parkinson Disease (genetics), Polymorphism, Genetic (genetics), Repetitive Sequences, Nucleic Acid (genetics), Repetitive Sequences, Nucleic Acid (physiology).
- MESH :
- chemical , genetics : Carrier Proteins.
- genetics : Parkinson Disease, Polymorphism, Genetic, Repetitive Sequences, Nucleic Acid.
- physiology : Repetitive Sequences, Nucleic Acid.
- Age of Onset, Aged, Alleles, Case-Control Studies, Chi-Square Distribution, Confidence Intervals, Disease Susceptibility, Dopamine Plasma Membrane Transport Proteins, Female, Gene Frequency, Genotype, Humans, Male, Membrane Glycoproteins, Membrane Transport Proteins, Nerve Tissue Proteins, Odds Ratio.
Abstract
The presynaptic dopamine transporter in nigral dopaminergic neurons confers susceptibility to the cytotoxic effects of the neurotoxic metabolite of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine. Polymorphisms in the dopamine transporter might influence the susceptibility to such toxins. Therefore, we investigated whether a polymorphic region in the 3'-untranslated region of the dopamine-transporter gene is associated with idiopathic Parkinson's disease (PD). The frequency distribution of the alleles was significantly different between the patients (n = 100) and controls (n = 200, p < 0.05). The rare 11-copy allele was more common in the patients (odds ratio = 10.2, 95% confidence interval - 1.2-87.9, p < 0.025). The susceptibility of some people to PD may be conferred by polymorphisms in the dopamine-transporter gene that could lead to increased cellular accumulation of neurotoxic compounds in dopaminergic neurons.
DOI: 10.1002/mds.870120523
PubMed: 9380062
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Association of a polymorphism in the dopamine-transporter gene with Parkinson's disease.</title><author><name sortKey="Le Couteur, D G" sort="Le Couteur, D G" uniqKey="Le Couteur D" first="D G" last="Le Couteur">D G Le Couteur</name><affiliation wicri:level="1"><nlm:affiliation>University of Queensland, Department of Medicine, Princess Alexandra Hospital, Woolloongabba, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>University of Queensland, Department of Medicine, Princess Alexandra Hospital, Woolloongabba</wicri:regionArea><wicri:noRegion>Woolloongabba</wicri:noRegion></affiliation></author><author><name sortKey="Leighton, P W" sort="Leighton, P W" uniqKey="Leighton P" first="P W" last="Leighton">P W Leighton</name></author><author><name sortKey="Mccann, S J" sort="Mccann, S J" uniqKey="Mccann S" first="S J" last="Mccann">S J Mccann</name></author><author><name sortKey="Pond, S M" sort="Pond, S M" uniqKey="Pond S" first="S M" last="Pond">S M Pond</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="1997">1997</date><idno type="RBID">pubmed:9380062</idno><idno type="pmid">9380062</idno><idno type="doi">10.1002/mds.870120523</idno><idno type="wicri:Area/PubMed/Corpus">004594</idno><idno type="wicri:Area/PubMed/Curation">004594</idno><idno type="wicri:Area/PubMed/Checkpoint">004713</idno><idno type="wicri:Area/Ncbi/Merge">004D89</idno><idno type="wicri:Area/Ncbi/Curation">004D89</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Association of a polymorphism in the dopamine-transporter gene with Parkinson's disease.</title><author><name sortKey="Le Couteur, D G" sort="Le Couteur, D G" uniqKey="Le Couteur D" first="D G" last="Le Couteur">D G Le Couteur</name><affiliation wicri:level="1"><nlm:affiliation>University of Queensland, Department of Medicine, Princess Alexandra Hospital, Woolloongabba, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>University of Queensland, Department of Medicine, Princess Alexandra Hospital, Woolloongabba</wicri:regionArea><wicri:noRegion>Woolloongabba</wicri:noRegion></affiliation></author><author><name sortKey="Leighton, P W" sort="Leighton, P W" uniqKey="Leighton P" first="P W" last="Leighton">P W Leighton</name></author><author><name sortKey="Mccann, S J" sort="Mccann, S J" uniqKey="Mccann S" first="S J" last="Mccann">S J Mccann</name></author><author><name sortKey="Pond, S M" sort="Pond, S M" uniqKey="Pond S" first="S M" last="Pond">S M Pond</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="1997" type="published">1997</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age of Onset</term><term>Aged</term><term>Alleles</term><term>Carrier Proteins (genetics)</term><term>Case-Control Studies</term><term>Chi-Square Distribution</term><term>Confidence Intervals</term><term>Disease Susceptibility</term><term>Dopamine Plasma Membrane Transport Proteins</term><term>Female</term><term>Gene Frequency</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Membrane Glycoproteins</term><term>Membrane Transport Proteins</term><term>Nerve Tissue Proteins</term><term>Odds Ratio</term><term>Parkinson Disease (genetics)</term><term>Polymorphism, Genetic (genetics)</term><term>Repetitive Sequences, Nucleic Acid (genetics)</term><term>Repetitive Sequences, Nucleic Acid (physiology)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Carrier Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term><term>Polymorphism, Genetic</term><term>Repetitive Sequences, Nucleic Acid</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Repetitive Sequences, Nucleic Acid</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Age of Onset</term><term>Aged</term><term>Alleles</term><term>Case-Control Studies</term><term>Chi-Square Distribution</term><term>Confidence Intervals</term><term>Disease Susceptibility</term><term>Dopamine Plasma Membrane Transport Proteins</term><term>Female</term><term>Gene Frequency</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Membrane Glycoproteins</term><term>Membrane Transport Proteins</term><term>Nerve Tissue Proteins</term><term>Odds Ratio</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The presynaptic dopamine transporter in nigral dopaminergic neurons confers susceptibility to the cytotoxic effects of the neurotoxic metabolite of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine. Polymorphisms in the dopamine transporter might influence the susceptibility to such toxins. Therefore, we investigated whether a polymorphic region in the 3'-untranslated region of the dopamine-transporter gene is associated with idiopathic Parkinson's disease (PD). The frequency distribution of the alleles was significantly different between the patients (n = 100) and controls (n = 200, p < 0.05). The rare 11-copy allele was more common in the patients (odds ratio = 10.2, 95% confidence interval - 1.2-87.9, p < 0.025). The susceptibility of some people to PD may be conferred by polymorphisms in the dopamine-transporter gene that could lead to increased cellular accumulation of neurotoxic compounds in dopaminergic neurons.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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