Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease

Parkinsonism Relat Disord. 2007 Oct;13(7):386-8. doi: 10.1016/j.parkreldis.2007.01.010. Epub 2007 Apr 2.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • DNA Mutational Analysis
  • Female
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Ireland / epidemiology
  • Male
  • Middle Aged
  • Norway / epidemiology
  • Parkinson Disease / epidemiology
  • Parkinson Disease / genetics*
  • Polymorphism, Genetic / physiology*
  • Promoter Regions, Genetic / genetics*
  • Risk*
  • Ubiquitin-Protein Ligases / genetics*
  • United States / epidemiology


  • Ubiquitin-Protein Ligases
  • parkin protein