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  • Rare POLG1 CAG variants do not influence Parkinson's disease or polymerase gamma function

    Author(s)
    Bentley, Steven R
    Shan, Jianguo
    Todorovic, Michael
    Wood, Stephen A
    Mellick, George D
    Griffith University Author(s)
    Mellick, George
    Todorovic, Michael
    Year published
    2014
    Metadata
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    Abstract
    A recent meta-analysis suggested that rare CAG repeat variants in the gene that encodes polymerase gamma (POLG1) predispose individuals to develop Parkinson's disease (PD); alternative alleles were proposed to increase risk by 27%. In the current case-control study of 2255 Australians, we observed no statistical association between individuals possessing rare CAG repeat genotypes and PD (p = 0.178); a subsequent meta-analysis of 2852 PD cases and 2833 controls was also non-significant (OR = 1.085, p = 0.124). Moreover, mitochondrial DNA synthesis (p = 0.427) or Complex I activity (p = 0.639) were not different in cells derived ...
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    A recent meta-analysis suggested that rare CAG repeat variants in the gene that encodes polymerase gamma (POLG1) predispose individuals to develop Parkinson's disease (PD); alternative alleles were proposed to increase risk by 27%. In the current case-control study of 2255 Australians, we observed no statistical association between individuals possessing rare CAG repeat genotypes and PD (p = 0.178); a subsequent meta-analysis of 2852 PD cases and 2833 controls was also non-significant (OR = 1.085, p = 0.124). Moreover, mitochondrial DNA synthesis (p = 0.427) or Complex I activity (p = 0.639) were not different in cells derived from individuals with different POLG1 genotypes. These data provide no evidence to suggest CAG repeat length in POLG1 affects PD susceptibility.
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    Journal Title
    Mitochondrion
    Volume
    15
    DOI
    https://doi.org/10.1016/j.mito.2014.01.004
    Subject
    Genetics
    Neurogenetics
    Publication URI
    http://hdl.handle.net/10072/63949
    Collection
    • Journal articles

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