The tau A0 allele in Parkinson's disease
Identifieur interne : 004667 ( Main/Exploration ); précédent : 004666; suivant : 004668The tau A0 allele in Parkinson's disease
Auteurs : Lawrence I. Golbe [États-Unis] ; Alice M. Lazzarini [États-Unis] ; John R. Spychala [États-Unis] ; William G. Johnson [États-Unis] ; Edward S. Stenroos [États-Unis] ; Margery H. Mark [États-Unis] ; Jacob I. Sage [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2001-05.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Aged, Alleles, Case-Control Studies, Female, Gene Frequency, Genetic Markers, Genotype, Human, Humans, Male, Metaanalysis, Middle Aged, Nerve Tissue Proteins (genetics), Parkinson Disease (classification), Parkinson Disease (genetics), Parkinson disease, Parkinson's disease, Pathophysiology, Polymerase chain reaction, Protein Isoforms, Supranuclear Palsy, Progressive (genetics), Synucleins, Tau protein, genetics, progressive supranuclear palsy, tau, tau Proteins (genetics).
- MESH :
- chemical , genetics : Nerve Tissue Proteins, tau Proteins.
- chemical : Genetic Markers, Protein Isoforms, Synucleins.
- classification : Parkinson Disease.
- genetics : Parkinson Disease, Supranuclear Palsy, Progressive.
- Aged, Alleles, Case-Control Studies, Female, Gene Frequency, Genotype, Humans, Male, Middle Aged.
Abstract
Parkinson's disease (PD) is primarily an α‐synucle‐ inopathy, rather than a tauopathy, but there is evidence for an indirect association of tau with the pathogenetic process in PD. We therefore assessed the frequency in PD of the tau A0 allele, a dinucleotide repeat marker that has been associated with a sporadic tauopathy, progressive supranuclear palsy (PSP). We found the A0 allele to comprise 79.2% of 758 alleles from PD patients and 71.2% of 264 control alleles (P = 0.008). We also performed a meta‐analysis of three previous reports, two of which failed to produce statistically significant results. Taken together, they also support a PD/A0 allelic association, even after correction for misdiagnosis of PSP as PD (P< 0.001). The A0/A0 genotype frequency in our patients (62.3%) did not differ significantly from that in controls (53.0%, P = 0.062), but the meta‐analysis, even after correction for misdiagnosis, showed a significant result, with P = 0.002. The frequency of A0 allele and the A0/A0 genotype were compatible with Hardy‐Weinberg equilibrium. The frequency of the A0 allele and the A0/A0 genotype in our patients with familial PD was not significantly greater than in those with sporadic PD. We conclude that the tau protein may play a small role in the pathogenesis of PD and that biochemical characterization of this role may suggest opportunities for PD prophylaxis. © 2001 Movement Disorder Society.
Url:
DOI: 10.1002/mds.1087
Affiliations:
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<term>Genotype</term>
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<front><div type="abstract" xml:lang="en">Parkinson's disease (PD) is primarily an α‐synucle‐ inopathy, rather than a tauopathy, but there is evidence for an indirect association of tau with the pathogenetic process in PD. We therefore assessed the frequency in PD of the tau A0 allele, a dinucleotide repeat marker that has been associated with a sporadic tauopathy, progressive supranuclear palsy (PSP). We found the A0 allele to comprise 79.2% of 758 alleles from PD patients and 71.2% of 264 control alleles (P = 0.008). We also performed a meta‐analysis of three previous reports, two of which failed to produce statistically significant results. Taken together, they also support a PD/A0 allelic association, even after correction for misdiagnosis of PSP as PD (P< 0.001). The A0/A0 genotype frequency in our patients (62.3%) did not differ significantly from that in controls (53.0%, P = 0.062), but the meta‐analysis, even after correction for misdiagnosis, showed a significant result, with P = 0.002. The frequency of A0 allele and the A0/A0 genotype were compatible with Hardy‐Weinberg equilibrium. The frequency of the A0 allele and the A0/A0 genotype in our patients with familial PD was not significantly greater than in those with sporadic PD. We conclude that the tau protein may play a small role in the pathogenesis of PD and that biochemical characterization of this role may suggest opportunities for PD prophylaxis. © 2001 Movement Disorder Society.</div>
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