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

Owen A. Ross, Kristoffer Haugarvoll, Jeremy T. Stone, Michael G. Heckman, Linda R. White, Jan O. Aasly, J. Mark Gibson, Timothy Lynch, Zbigniew K. Wszolek, Ryan J. Uitti, Matthew J. Farrer

Research output: Contribution to journalArticle

5 Scopus citations

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 languageEnglish (US)
Pages (from-to)386-388
Number of pages3
JournalParkinsonism and Related Disorders
Volume13
Issue number7
DOIs
StatePublished - Oct 1 2007

Keywords

  • Parkin
  • Parkinson's disease
  • Promoter SNP

ASJC Scopus subject areas

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology

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    Ross, O. A., Haugarvoll, K., Stone, J. T., Heckman, M. G., White, L. R., Aasly, J. O., Mark Gibson, J., Lynch, T., Wszolek, Z. K., Uitti, R. J., & Farrer, M. J. (2007). Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease. Parkinsonism and Related Disorders, 13(7), 386-388. https://doi.org/10.1016/j.parkreldis.2007.01.010