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.
Ross
Owen A
OA
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
Haugarvoll
Kristoffer
K
Stone
Jeremy T
JT
Heckman
Michael G
MG
White
Linda R
LR
Aasly
Jan O
JO
Mark Gibson
J
J
Lynch
Timothy
T
Wszolek
Zbigniew K
ZK
Uitti
Ryan J
RJ
Farrer
Matthew J
MJ
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
D044767:Ubiquitin-Protein Ligases; C111567:parkin protein