Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.060 | GeneticVariation | BEFREE | Case-control study of the UCH-L1 S18Y variant in sporadic Parkinson's disease in the Chinese population. | 21315600 | 2011 |
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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 |
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0.060 | GeneticVariation | BEFREE | We investigated the association of S18Y in our Swedish PD material. | 17287139 | 2007 |
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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 |
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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 |
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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 |
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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 |