Association of a polymorphism in the dopamine‐transporter gene with parkinson's disease
Identifieur interne : 005400 ( Main/Curation ); précédent : 005399; suivant : 005401Association of a polymorphism in the dopamine‐transporter gene with parkinson's disease
Auteurs : le Couteur [Australie] ; Peter W. Leighton [Australie] ; Sally J. Mccann [Australie] ; Susan M. Pond [Australie]Source :
- Movement Disorders [ 0885-3185 ] ; 1997-09.
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, Dopamine transporter, Female, Gene Frequency, Genotype, Humans, Male, Membrane Glycoproteins, Membrane Transport Proteins, Nerve Tissue Proteins, Odds Ratio, Parkinson Disease (genetics), Parkinson's disease, Polymorphism, Polymorphism, Genetic (genetics), Repetitive Sequences, Nucleic Acid (genetics), Repetitive Sequences, Nucleic Acid (physiology), Variable‐number tandem repeat.
- 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‐methy1‐4‐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.
Url:
DOI: 10.1002/mds.870120523
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ISTEX:6F1D130494B9C0301723AFA278CEBA9DC1FE54B9Le document en format XML
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<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>
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<term>Female</term>
<term>Gene Frequency</term>
<term>Genotype</term>
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<term>Male</term>
<term>Membrane Glycoproteins</term>
<term>Membrane Transport Proteins</term>
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<term>Odds Ratio</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson's disease</term>
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<term>Repetitive Sequences, Nucleic Acid (genetics)</term>
<term>Repetitive Sequences, Nucleic Acid (physiology)</term>
<term>Variable‐number tandem repeat</term>
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<term>Chi-Square Distribution</term>
<term>Confidence Intervals</term>
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<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‐methy1‐4‐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>
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