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  • A functional polymorphism in the parkin gene promoter affects the age of onset of Parkinson's disease

    Author(s)
    Sutherland, Greg
    Mellick, George
    Sue, Carolyn
    Chan, Daniel KY
    Rowe, Dominic
    Silburn, Peter
    Halliday, Glenda
    Griffith University Author(s)
    Mellick, George
    Year published
    2007
    Metadata
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    Abstract
    Mutations in the parkin gene are the major cause of autosomal recessive early-onset forms of Parkinson's disease (PD). As reduced parkin expression might also affect the clinical course of idiopathic PD we investigated the effect of a low expressing allele in the parkin promoter region on the age at disease onset (AAO). Patients with PD (n=175) fulfilling standard diagnostic criteria were recruited by experienced neurologists at two movement disorders clinics in Sydney and Brisbane, Australia. DNA was extracted from whole blood and the -258 T/G polymorphism genotyped using PCR/RFLP. AAO effects were analysed using univariate ...
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    Mutations in the parkin gene are the major cause of autosomal recessive early-onset forms of Parkinson's disease (PD). As reduced parkin expression might also affect the clinical course of idiopathic PD we investigated the effect of a low expressing allele in the parkin promoter region on the age at disease onset (AAO). Patients with PD (n=175) fulfilling standard diagnostic criteria were recruited by experienced neurologists at two movement disorders clinics in Sydney and Brisbane, Australia. DNA was extracted from whole blood and the -258 T/G polymorphism genotyped using PCR/RFLP. AAO effects were analysed using univariate ANOVA, binomial logistic regression modelling and Kaplan-Meier survival analysis. Subjects with the GG genotype (n=10, mean AAO=46.2+/-11.5 (S.D.) years) had a significantly lower mean AAO compared to the common TT genotype (n=104, mean AAO=56.1+/-12.7, p=0.02). There was no difference in mean AAO between the TT and TG individuals (n=61, mean AAO=55.3+/-11.6). Stratifying the sample by median AAO (55 years) revealed that the GG genotype was over-represented in the early-onset group (n=9, OR=18.6, 95% CI=1.41-245.3, p=0.03). We speculate that reduced expression of normal parkin protein may result in an early manifestation of PD symptoms.
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    Journal Title
    Neuroscience Letters
    Volume
    414
    Issue
    2
    Publisher URI
    http://www.elsevier.com/wps/find/journaldescription.cws_home/506081/description#description
    DOI
    https://doi.org/10.1016/j.neulet.2006.12.051
    Subject
    Neurosciences
    Cognitive and computational psychology
    Publication URI
    http://hdl.handle.net/10072/19552
    Collection
    • Journal articles

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