title: Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease.
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.
authors.affiliation: Department of Neuroscience, Molecular Genetics Laboratory and Core, Morris K Udall Parkinson's Disease Research Center of Excellence, Mayo Clinic, Jacksonville, FL 32224, USA. ross.owen@mayo.edu
authors.forename: Owen A
authors.initials: OA
authors.lastname: Ross
authors.forename: Kristoffer
authors.initials: K
authors.lastname: Haugarvoll
authors.forename: Jeremy T
authors.initials: JT
authors.lastname: Stone
authors.forename: Michael G
authors.initials: MG
authors.lastname: Heckman
authors.forename: Linda R
authors.initials: LR
authors.lastname: White
authors.forename: Jan O
authors.initials: JO
authors.lastname: Aasly
authors.forename: J
authors.initials: J
authors.lastname: Mark Gibson
authors.forename: Timothy
authors.initials: T
authors.lastname: Lynch
authors.forename: Zbigniew K
authors.initials: ZK
authors.lastname: Wszolek
authors.forename: Ryan J
authors.initials: RJ
authors.lastname: Uitti
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Farrer
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007494:Ireland / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009664:Norway / Q000453:epidemiology; D010300:Parkinson Disease / Q000453:epidemiology / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000502:physiology*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012306:Risk; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D014481:United States / Q000453:epidemiology
chemical_list: D044767:Ubiquitin-Protein Ligases; C111567:parkin protein