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
Year published
2014
Metadata
Show full item recordAbstract
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 ...
View more >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.
View less >
View more >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
Subject
Genetics
Neurogenetics