Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population |
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| Authors: | Novin Balafkan Charalampos Tzoulis Bernd Müller Kristoffer Haugarvoll Ole-Bjørn Tysnes Jan Petter Larsen Laurence A Bindoff |
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| Institution: | 1. Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India;2. Department of Clinical Neurosciences, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India;3. Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India;4. Department of Neurochemistry, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India;5. Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India;6. CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India |
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| Abstract: | The number of CAG repeats in the mitochondrial DNA-polymerase gamma (POLG1) gene has been associated with Parkinson disease (PD) in some populations. We sequenced the CAG tract of POLG1 in 191 Norwegian patients with PD and an equal number of controls and found an association between non-10 or 11 CAG repeats and PD in our population. While our results were significant, this trend was not maintained following correction for multiple testing. We also performed a meta-analysis of all published studies including our own that shows PD is associated with the number of CAG repeats in POLG1. The meta-analysis reveals that the rare allelic variation encompassed by non-10 CAG repeats associates significantly with PD (p = 0.0017). Whether this reflects a direct influence of POLG on the pathogenesis of PD or linkage disequilibrium between POLG1 alleles and nearby, disease-influencing genetic variants remains unknown. |
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