S18Y in ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) associated with decreased risk of Parkinson's disease in Sweden.
Ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) is a neuron-specific enzyme that removes ubiquitin from the C-terminal end of substrates and a component of the ubiquitin-proteasome system. A protective effect of a UCH-L1 variant, S18Y, was suggested since the common variant was found to be inversely associated with sporadic Parkinson's disease (PD). We investigated the association of S18Y in our Swedish PD material. The tyrosine variant was significantly inversely associated with PD (P=0.049) and with a low age of onset (50 years) (P=0.017) in the case-control material, supporting the hypothesis of a protective function.
Carmine Belin
Andrea
A
Department of Neuroscience, Karolinska Institutet, Retzius väg 8 B2:4, 171 77 Stockholm, Sweden. Andrea.Carmine.Belin@ki.se
Westerlund
Marie
M
Bergman
Olle
O
Nissbrandt
Hans
H
Lind
Charlotta
C
Sydow
Olof
O
Galter
Dagmar
D
D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016017:Odds Ratio; D010300:Parkinson Disease / Q000453:epidemiology / Q000235:genetics*; D012694:Serine / Q000235:genetics*; D013548:Sweden / Q000453:epidemiology; D014443:Tyrosine / Q000235:genetics*; D043222:Ubiquitin Thiolesterase / Q000235:genetics*
C482860:UCHL1 protein, human; D014443:Tyrosine; D012694:Serine; D043222:Ubiquitin Thiolesterase