Abstract
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.
Original language | English (US) |
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Pages (from-to) | 386-388 |
Number of pages | 3 |
Journal | Parkinsonism and Related Disorders |
Volume | 13 |
Issue number | 7 |
DOIs | |
State | Published - Oct 2007 |
Keywords
- Parkin
- Parkinson's disease
- Promoter SNP
ASJC Scopus subject areas
- Neurology
- Geriatrics and Gerontology
- Clinical Neurology