Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030732
rs5030732
0.060 GeneticVariation BEFREE Case-control study of the UCH-L1 S18Y variant in sporadic Parkinson's disease in the Chinese population. 21315600

2011

dbSNP: rs5030732
rs5030732
0.060 GeneticVariation BEFREE We conclude that the S18Y variant of UCH-L1 confers a novel antioxidant function that is not present in the WT form and that this function may underlie the protective effects of this variant in certain PD populations. 18411255

2008

dbSNP: rs5030732
rs5030732
0.060 GeneticVariation BEFREE We investigated the association of S18Y in our Swedish PD material. 17287139

2007

dbSNP: rs5030732
rs5030732
0.060 GeneticVariation BEFREE Since a substitution of serine by tyrosine at codon 18, exon 3 (S18Y polymorphism) of the UCH-L1 gene exhibits a protective effect against the development of degenerative disease such as sporadic Parkinson's disease (PD) in several different ethnic groups, we hypothesized that UCH-L1 gene S18Y polymorphism may have that same effect on the pathologic process of AD. 16626667

2006

dbSNP: rs5030732
rs5030732
0.060 GeneticVariation BEFREE Finally, in an updated S18Y-PD meta-analysis (6,594 subjects), no significant association was observed under additive, recessive, or dominant models (odds ratio = 1.00 [95% confidence interval: 0.74-1.33]; odds ratio = 1.01 [95% confidence interval: 0.76-1.35]; and odds ratio = 0.96 [95% confidence interval: 0.86-1.08], respectively), and a cumulative meta-analysis showed a trend toward a null effect. 16450370

2006

dbSNP: rs5030732
rs5030732
0.060 GeneticVariation BEFREE A polymorphic variation of serine to tyrosine at codon 18 in the ubiquitin C-terminal hydrolase-L1 gene is associated with a reduced risk of sporadic Parkinson's disease in a Japanese population. 11535241

2001

dbSNP: rs121917767
rs121917767
0.010 GeneticVariation BEFREE We propose that aberrant interactions of UCH-L1 variants with CMA machinery, at least partly, underlie the pathogenesis of I93M UCH-L1-associated PD, and possibly of sporadic PD. 18635949

2008