Association of α‐synuclein Rep1 polymorphism and Parkinson's disease: Influence of Rep1 on age at onset
Identifieur interne : 003579 ( Main/Curation ); précédent : 003578; suivant : 003580Association of α‐synuclein Rep1 polymorphism and Parkinson's disease: Influence of Rep1 on age at onset
Auteurs : Georgios M. Hadjigeorgiou [Grèce] ; Georgia Xiromerisiou [Grèce, États-Unis] ; Vanessa Gourbali [Grèce] ; Kostantinos Aggelakis [Grèce] ; Nikolaos Scarmeas [Grèce, États-Unis] ; Alexandros Papadimitriou [Grèce] ; Andrew Singleton [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-04.
Descripteurs français
- Pascal (Inist)
- Wicri :
- geographic : Grèce.
English descriptors
- KwdEn :
- Adult, Age of Onset, Age of onset, Aged, Aged, 80 and over, Analysis of Variance, Case-Control Studies, Chi-Square Distribution, Confidence Intervals, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Greece (ethnology), Humans, Male, Microsatellite Repeats (genetics), Middle Aged, Nervous system diseases, Odds Ratio, Parkinson Disease (genetics), Parkinson Disease (mortality), Parkinson disease, Parkinson's disease, Polymorphism, Polymorphism, Genetic, Promoter Regions, Genetic, Rep1, polymorphism, Survival Analysis, alpha-Synuclein (genetics), association study, α‐synuclein.
- MESH :
- chemical , genetics : alpha-Synuclein.
- geographic , ethnology : Greece.
- genetics : Microsatellite Repeats, Parkinson Disease.
- mortality : Parkinson Disease.
- Adult, Age of Onset, Aged, Aged, 80 and over, Analysis of Variance, Case-Control Studies, Chi-Square Distribution, Confidence Intervals, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Odds Ratio, Polymorphism, Genetic, Promoter Regions, Genetic, Survival Analysis.
Abstract
The α‐synuclein Rep1 polymorphism was studied in patients and controls in an ethnic Greek population. There was an association of allele 2 with risk of Parkinson's disease (PD; adjusted odd ratio = 3.25; 95% CI = 1.80–5.87). Survival analyses (Cox proportional hazards models) were employed to explore the influence of genotypes on age at onset of PD. Age at onset of carriers of at least one Rep1 allele 2 was earlier (3.6 years) compared to noncarriers (adjusted hazard ratio = 2.21; 95% CI = 1.58–3.10). Kaplan–Meier analysis also supported a dosage effect of Rep1 allele 2 on age at onset. For Rep1 allele 1, there was neither association with risk of PD nor influence on age at onset. This is the first study showing an influence of Rep1 polymorphism on age at onset of PD. © 2005 Movement Disorder Society
Url:
DOI: 10.1002/mds.20752
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<term>Gene Frequency</term>
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<term>Parkinson disease</term>
<term>Parkinson's disease</term>
<term>Polymorphism</term>
<term>Polymorphism, Genetic</term>
<term>Promoter Regions, Genetic</term>
<term>Rep1, polymorphism</term>
<term>Survival Analysis</term>
<term>alpha-Synuclein (genetics)</term>
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<front><div type="abstract" xml:lang="en">The α‐synuclein Rep1 polymorphism was studied in patients and controls in an ethnic Greek population. There was an association of allele 2 with risk of Parkinson's disease (PD; adjusted odd ratio = 3.25; 95% CI = 1.80–5.87). Survival analyses (Cox proportional hazards models) were employed to explore the influence of genotypes on age at onset of PD. Age at onset of carriers of at least one Rep1 allele 2 was earlier (3.6 years) compared to noncarriers (adjusted hazard ratio = 2.21; 95% CI = 1.58–3.10). Kaplan–Meier analysis also supported a dosage effect of Rep1 allele 2 on age at onset. For Rep1 allele 1, there was neither association with risk of PD nor influence on age at onset. This is the first study showing an influence of Rep1 polymorphism on age at onset of PD. © 2005 Movement Disorder Society</div>
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<author><name sortKey="Xiromerisiou, Georgia" sort="Xiromerisiou, Georgia" uniqKey="Xiromerisiou G" first="Georgia" last="Xiromerisiou">Georgia Xiromerisiou</name>
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<country>États-Unis</country>
<placeName><region type="state">Maryland</region>
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</author>
<author><name sortKey="Gourbali, Vanessa" sort="Gourbali, Vanessa" uniqKey="Gourbali V" first="Vanessa" last="Gourbali">Vanessa Gourbali</name>
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<s3>GRC</s3>
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</author>
<author><name sortKey="Aggelakis, Kostantinos" sort="Aggelakis, Kostantinos" uniqKey="Aggelakis K" first="Kostantinos" last="Aggelakis">Kostantinos Aggelakis</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurogenetics Unit, Department of Neurology, Medical School, University of Thessaly</s1>
<s2>Larissa</s2>
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<sZ>2 aut.</sZ>
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<country>Grèce</country>
<wicri:noRegion>Larissa</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Scarmeas, Nikolaos" sort="Scarmeas, Nikolaos" uniqKey="Scarmeas N" first="Nikolaos" last="Scarmeas">Nikolaos Scarmeas</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurogenetics Unit, Department of Neurology, Medical School, University of Thessaly</s1>
<s2>Larissa</s2>
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<sZ>2 aut.</sZ>
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<country>Grèce</country>
<wicri:noRegion>Larissa</wicri:noRegion>
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<affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Cognitive Neuroscience Division, Taub Institute, Department of Neurology, Columbia University Medical Center</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Papadimitriou, Alexandros" sort="Papadimitriou, Alexandros" uniqKey="Papadimitriou A" first="Alexandros" last="Papadimitriou">Alexandros Papadimitriou</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurogenetics Unit, Department of Neurology, Medical School, University of Thessaly</s1>
<s2>Larissa</s2>
<s3>GRC</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
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<sZ>6 aut.</sZ>
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<country>Grèce</country>
<wicri:noRegion>Larissa</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
<affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Molecular Genetics Section, Laboratory of Neurogenetics, National Institutes of Health</s1>
<s2>Bethesda, Maryland</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
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</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2006">2006</date>
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</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age of onset</term>
<term>Nervous system diseases</term>
<term>Parkinson disease</term>
<term>Polymorphism</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Parkinson maladie</term>
<term>Polymorphisme</term>
<term>Age apparition</term>
</keywords>
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<front><div type="abstract" xml:lang="en">The α-synuclein Rep1 polymorphism was studied in patients and controls in an ethnic Greek population. There was an association of allele 2 with risk of Parkinson's disease (PD; adjusted odd ratio = 3.25; 95% CI = 1.80-5.87). Survival analyses (Cox proportional hazards models) were employed to explore the influence of genotypes on age at onset of PD. Age at onset of carriers of at least one Rep1 allele 2 was earlier (3.6 years) compared to noncarriers (adjusted hazard ratio = 2.21: 95% CI = 1.58-3.10). Kaplan-Meier analysis also supported a dosage effect of Rep1 allele 2 on age at onset. For Rep1 allele 1, there was neither association with risk of PD nor influence on age at onset. This is the first study showing an influence of Rep1 polymorphism on age at onset of PD.</div>
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<author><name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M." last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name>
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<author><name sortKey="Xiromerisiou, Georgia" sort="Xiromerisiou, Georgia" uniqKey="Xiromerisiou G" first="Georgia" last="Xiromerisiou">Georgia Xiromerisiou</name>
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<author><name sortKey="Gourbali, Vanessa" sort="Gourbali, Vanessa" uniqKey="Gourbali V" first="Vanessa" last="Gourbali">Vanessa Gourbali</name>
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<author><name sortKey="Aggelakis, Kostantinos" sort="Aggelakis, Kostantinos" uniqKey="Aggelakis K" first="Kostantinos" last="Aggelakis">Kostantinos Aggelakis</name>
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<author><name sortKey="Scarmeas, Nikolaos" sort="Scarmeas, Nikolaos" uniqKey="Scarmeas N" first="Nikolaos" last="Scarmeas">Nikolaos Scarmeas</name>
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<author><name sortKey="Papadimitriou, Alexandros" sort="Papadimitriou, Alexandros" uniqKey="Papadimitriou A" first="Alexandros" last="Papadimitriou">Alexandros Papadimitriou</name>
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</affiliation>
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<author><name sortKey="Xiromerisiou, Georgia" sort="Xiromerisiou, Georgia" uniqKey="Xiromerisiou G" first="Georgia" last="Xiromerisiou">Georgia Xiromerisiou</name>
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<author><name sortKey="Gourbali, Vanessa" sort="Gourbali, Vanessa" uniqKey="Gourbali V" first="Vanessa" last="Gourbali">Vanessa Gourbali</name>
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</author>
<author><name sortKey="Aggelakis, Kostantinos" sort="Aggelakis, Kostantinos" uniqKey="Aggelakis K" first="Kostantinos" last="Aggelakis">Kostantinos Aggelakis</name>
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<wicri:regionArea>Neurogenetics Unit, Department of Neurology, Medical School, University of Thessaly, Larissa</wicri:regionArea>
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<author><name sortKey="Scarmeas, Nikolaos" sort="Scarmeas, Nikolaos" uniqKey="Scarmeas N" first="Nikolaos" last="Scarmeas">Nikolaos Scarmeas</name>
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</affiliation>
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<placeName><region type="state">État de New York</region>
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<author><name sortKey="Papadimitriou, Alexandros" sort="Papadimitriou, Alexandros" uniqKey="Papadimitriou A" first="Alexandros" last="Papadimitriou">Alexandros Papadimitriou</name>
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<author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
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<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="sub">Official Journal of the Movement Disorder Society</title>
<title level="j" type="abbrev">Mov. Disord.</title>
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<term>Age of Onset</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Analysis of Variance</term>
<term>Case-Control Studies</term>
<term>Chi-Square Distribution</term>
<term>Confidence Intervals</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genetic Predisposition to Disease</term>
<term>Genotype</term>
<term>Greece (ethnology)</term>
<term>Humans</term>
<term>Male</term>
<term>Microsatellite Repeats (genetics)</term>
<term>Middle Aged</term>
<term>Odds Ratio</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson Disease (mortality)</term>
<term>Parkinson's disease</term>
<term>Polymorphism, Genetic</term>
<term>Promoter Regions, Genetic</term>
<term>Rep1, polymorphism</term>
<term>Survival Analysis</term>
<term>alpha-Synuclein (genetics)</term>
<term>association study</term>
<term>α‐synuclein</term>
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<term>Age of Onset</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Analysis of Variance</term>
<term>Case-Control Studies</term>
<term>Chi-Square Distribution</term>
<term>Confidence Intervals</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genetic Predisposition to Disease</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Odds Ratio</term>
<term>Polymorphism, Genetic</term>
<term>Promoter Regions, Genetic</term>
<term>Survival Analysis</term>
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<front><div type="abstract" xml:lang="en">The α‐synuclein Rep1 polymorphism was studied in patients and controls in an ethnic Greek population. There was an association of allele 2 with risk of Parkinson's disease (PD; adjusted odd ratio = 3.25; 95% CI = 1.80–5.87). Survival analyses (Cox proportional hazards models) were employed to explore the influence of genotypes on age at onset of PD. Age at onset of carriers of at least one Rep1 allele 2 was earlier (3.6 years) compared to noncarriers (adjusted hazard ratio = 2.21; 95% CI = 1.58–3.10). Kaplan–Meier analysis also supported a dosage effect of Rep1 allele 2 on age at onset. For Rep1 allele 1, there was neither association with risk of PD nor influence on age at onset. This is the first study showing an influence of Rep1 polymorphism on age at onset of PD. © 2005 Movement Disorder Society</div>
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