Abstract
We studied POLG1 in 140 UK patients with idiopathic Parkinson disease (PD) and 279 Italian patients with PD and compared them to a UK control group (n = 207) and an Italian control group (n = 285). Our observations do not support a role for common POLG1 genetic variants in PD and indicate that dominant POLG1 mutations are a rare cause of parkinsonism in the general population.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Aged
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Cohort Studies
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DNA Mutational Analysis
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DNA Polymerase gamma
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DNA-Directed DNA Polymerase / analysis
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DNA-Directed DNA Polymerase / genetics*
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Exons / genetics
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Female
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Gene Frequency
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Genetic Markers / genetics
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Genetic Predisposition to Disease / genetics*
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Genetic Testing
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Genetic Variation / genetics
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Genotype
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Humans
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Italy
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Male
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Middle Aged
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Mutation / genetics*
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Parkinson Disease / genetics*
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Parkinson Disease / physiopathology
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Polymorphism, Genetic / genetics*
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United Kingdom
Substances
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Genetic Markers
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DNA Polymerase gamma
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DNA-Directed DNA Polymerase
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POLG protein, human