Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease
Copyright policy )Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease
Parkin (PRKN) mutations are a common cause of early-onset parkinsonism, however the role of this gene in typical late-onset Parkinson's disease (PD) remains unresolved. A single nucleotide polymorphism in the promoter region (PRKN-258; rs9347683) has been observed to associate with PD, affect age-at-onset (AAO) of symptoms, and to functionally effect differential expression of the PRKN transcript. In the present study, PRKN-258 did not associate with PD, and no evidence for an AAO effect was observed in three age and gender-matched Caucasian patient-control series from Norway, Ireland and the US. These data do not support a role for this common variant in PD etiology.
- University College Dublin Ireland
- Royal Victoria Eye and Ear Hospital Ireland
- Mater Misericordiae Hospital Australia
- Mayo Clinic United States
- Mater Misericordiae University Hospital Ireland
Adult, Aged, 80 and over, Male, Risk, Polymorphism, Genetic, Genotype, Norway, Ubiquitin-Protein Ligases, DNA Mutational Analysis, Parkinson Disease, Middle Aged, United States, Humans, Female, Genetic Predisposition to Disease, Promoter Regions, Genetic, Ireland, Aged
Adult, Aged, 80 and over, Male, Risk, Polymorphism, Genetic, Genotype, Norway, Ubiquitin-Protein Ligases, DNA Mutational Analysis, Parkinson Disease, Middle Aged, United States, Humans, Female, Genetic Predisposition to Disease, Promoter Regions, Genetic, Ireland, Aged
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