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

Steven R. Bentley; Jianguo Shan; Michael Todorovic; Stephen A. Wood; George D. Mellick

doi:10.1016/j.mito.2014.01.004

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

Steven R. Bentley, Jianguo Shan, Michael Todorovic, Stephen A. Wood, George D. Mellick^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Research › peer-review

9 Citations (Scopus)

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 from individuals with different POLG1 genotypes. These data provide no evidence to suggest CAG repeat length in POLG1 affects PD susceptibility.

Original language	English
Pages (from-to)	65-68
Number of pages	4
Journal	Mitochondrion
Volume	15
Issue number	1
DOIs	https://doi.org/10.1016/j.mito.2014.01.004
Publication status	Published - Mar 2014
Externally published	Yes

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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 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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AU - Bentley, Steven R.

AU - Shan, Jianguo

AU - Todorovic, Michael

AU - Wood, Stephen A.

AU - Mellick, George D.

PY - 2014/3

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N2 - 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.

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

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