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Rare POLG1 CAG variants do not influence Parkinson's disease or polymerase gamma function
Steven R Bentley1, Jianguo Shan1, Michael Todorovic1
1Eskitis Institute for Drug Discovery, Griffith University, Brisbane, Queensland, Australia.
Mitochondrion
|February 5, 2014
Summary
Rare variants in the polymerase gamma (POLG1) gene do not increase Parkinson's disease risk. This study found no association between POLG1 CAG repeat length and PD susceptibility.
Area of Science:
- Neuroscience
- Genetics
- Mitochondrial Biology
Background:
- Previous research suggested rare CAG repeat variants in the polymerase gamma (POLG1) gene may increase Parkinson's disease (PD) risk.
- Alternative alleles were proposed to confer a 27% increased risk.
Purpose of the Study:
- To investigate the association between rare CAG repeat variants in the POLG1 gene and the risk of developing Parkinson's disease.
- To determine if POLG1 genotype influences mitochondrial function in PD patients.
Main Methods:
- A case-control study of 2255 Australian individuals.
- A meta-analysis including 2852 PD cases and 2833 controls.
- Assessment of mitochondrial DNA synthesis and Complex I activity in cells from individuals with varying POLG1 genotypes.
Main Results:
- No statistical association was found between rare POLG1 CAG repeat genotypes and Parkinson's disease in the Australian cohort (p=0.178).
- A meta-analysis of combined data also yielded non-significant results (OR=1.085, p=0.124).
- No significant differences in mitochondrial DNA synthesis (p=0.427) or Complex I activity (p=0.639) were observed based on POLG1 genotype.
Conclusions:
- The study provides no evidence supporting a link between POLG1 CAG repeat length and Parkinson's disease susceptibility.
- POLG1 gene variants do not appear to be a significant risk factor for Parkinson's disease.
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