Association of α-synuclein Rep1 polymorphism and Parkinson's disease: Influence of Rep1 on age at onset

Authors

  • Georgios M. Hadjigeorgiou MD,

    Corresponding author
    1. Neurogenetics Unit, Department of Neurology, Medical School, University of Thessaly, Larissa, Greece
    • Neurogenetics Unit, Department of Neurology, University of Thessaly, Medical School, Papakyriazi 22 Street, Larissa 41222, Greece

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  • Georgia Xiromerisiou,

    1. Neurogenetics Unit, Department of Neurology, Medical School, University of Thessaly, Larissa, Greece
    2. Molecular Genetics Section, Laboratory of Neurogenetics, National Institutes of Health, Bethesda, Maryland, USA
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  • Vanessa Gourbali,

    1. Neurogenetics Unit, Department of Neurology, Medical School, University of Thessaly, Larissa, Greece
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  • Kostantinos Aggelakis MD,

    1. Neurogenetics Unit, Department of Neurology, Medical School, University of Thessaly, Larissa, Greece
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  • Nikolaos Scarmeas MD,

    1. Neurogenetics Unit, Department of Neurology, Medical School, University of Thessaly, Larissa, Greece
    2. Cognitive Neuroscience Division, Taub Institute, Department of Neurology, Columbia University Medical Center, New York, New York, USA
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  • Alexandros Papadimitriou MD,

    1. Neurogenetics Unit, Department of Neurology, Medical School, University of Thessaly, Larissa, Greece
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  • Andrew Singleton PhD

    1. Molecular Genetics Section, Laboratory of Neurogenetics, National Institutes of Health, Bethesda, Maryland, USA
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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

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