Parkin variants in North American Parkinson's disease: cases and controls.
We report on an evaluation of coding variants within the parkin gene to assess their frequency in a North American clinical series of 313 Parkinson's disease (PD) cases and 192 unrelated controls. We hypothesized that the carrier frequency of parkin coding mutations, exon deletions, or duplications may be greater in PD cases. However, point mutations and exonic deletions/duplications, reported previously as pathogenic in homozygous or compound heterozygous individuals, occurred in both cases and controls with similar frequencies (3.8% in cases, 3.1% in controls). Furthermore, only stratified subanalyses detected any genetic association between the V380L common coding polymorphism and PD. We discuss the implication of parkin mutations for Parkinson's disease from this population perspective.
Lincoln
Sarah J
SJ
Department of Neuroscience, Mayo Clinic Jacksonville, Florida 32224, USA.
Maraganore
Demetrius M
DM
Lesnick
Timothy G
TG
Bounds
Rebecca
R
de Andrade
Mariza
M
Bower
James H
JH
Hardy
John A
JA
Farrer
Matthew J
MJ
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002851:Chromatography, High Pressure Liquid; D002874:Chromosome Mapping / Q000379:methods*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D014481:United States / Q000453:epidemiology
D044767:Ubiquitin-Protein Ligases; C111567:parkin protein