|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Several familial mutations of UCH-L1, namely p.Ile93Met (p.I93M), p.Glu7Ala (p.E7A), and p.Ser18Tyr (p.S18Y), are associated with PD and other neurodegenerative disorders.
|
26899237 |
2017 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
In conclusion, our meta-analysis suggests that UCHL1 S18Y polymorphism is moderately associated with susceptibility to PD, and more studies are needed to confirm our conclusion.
|
25370916 |
2015 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
To our knowledge, this is the latest and largest meta-analysis assessing the association of the UCHL-1 S18Y variant with the risk of PD in Asian ancestry.© 2014 S. Karger AG, Basel.
|
25471998 |
2014 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Thus, the current meta-analysis suggests no evidence for the association between the UCHL1 S18Y polymorphism and PD risk in the Asian population, especially in subgroups of ethnicity and age at onset.
|
25354657 |
2014 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Overall, these data provide evidence for an antioxidant and neuroprotective effect of the S18Y variant of UCH-L1, but not of the WT protein, in the dopaminergic system, and may have implications for the pathogenesis of PD or related neurodegenerative conditions, in which oxidative stress might play a role.
|
22076440 |
2012 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
This study reveals that the UCHL1 S18Y variant is a risk factor for sporadic PD.
|
22839974 |
2012 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
These results indicate that, if involved in PD, the S18Y variant is not a major determinant of risk and its effect might be restricted to early-onset disease.
|
21345711 |
2011 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
S18Y and I93M mutants, which are associated with a decreased risk or an increased risk of PD, respectively, are less stable than wild type.
|
21251915 |
2011 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
A protective role of the p.S18Y polymorphism of the UCHL1 gene has been shown in Parkinson`s disease.
|
21268678 |
2011 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Possession of the S18Y variant did not alter the risk of developing PD (odds ratio: 0.827; 95% confidence interval=0.596-1.147).
|
21315600 |
2011 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
We conducted a case-control study in a cohort of 517 PD cases and 518 ethnically matched controls to investigate the association of ubiquitin specific proteases USP24 rs487230 C>T, USP40 rs1048603 C>T, and ubiquitin thiolesterase UCHL1 rs5030732 A>C polymorphisms with the risk of PD.
|
20302855 |
2010 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The inverse association of the functional ubiquitin carboxy-terminal hydrolase L1 (UCHL1) S18Y variant with Parkinson's disease (PD) among Caucasian populations has been debated.
|
19329225 |
2010 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Using the Venice criteria, developed by the Human Genome Epidemiology Network Working Group on the assessment of cumulative evidence, the authors concluded that moderate evidence exists for an association between the S18Y variant and Parkinson's disease.
|
19864305 |
2009 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Lack of evidence for association of a UCH-L1 S18Y polymorphism with Parkinson's disease in a Han-Chinese population.
|
18638528 |
2008 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The objective of this study was to explore combined effects of four candidate susceptibility genes and two exposures on Parkinson's disease (PD) risk; namely, alpha-synuclein (SNCA) promoter polymorphism REP1, microtubule-associated protein tau (MAPT) H1/H2 haplotypes, apolipoprotein E (APOE) epsilon2/epsilon3/epsilon4 polymorphism, ubiquitin carboxy-terminal esterase L1 (UCHL1) S18Y variant, cigarette smoking and caffeinated coffee consumption.
|
18210157 |
2008 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our results suggest that UCHL1 S18Y is not a major susceptibility factor for PD in white populations although we cannot exclude the possibility that the S18Y variant exerts weak effects on risk, particularly in early-onset disease.
|
18093156 |
2008 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
S18Y in ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) associated with decreased risk of Parkinson's disease in Sweden.
|
17287139 |
2007 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
We provided an independent confirmation of the protective effect of the UCHL1 S18Y variant (Y/Y genotype) against PD in young Chinese subjects.
|
16941465 |
2006 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
This search included the S18Y variant of UCHL-1, which has been reported to be protective in Parkinson's disease.
|
16007636 |
2005 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Although no further UCHL-1 mutations have been identified, a common non-synonymous S18Y polymorphism has been suggested to reduce disease susceptibility in non-mendelian forms of PD.
|
15221445 |
2004 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
We found a statistically significant inverse association of S18Y with PD.
|
15048890 |
2004 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The relationship between PD and S18Y was modified by age at onset (P = 0.03).
|
12539205 |
2003 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
A polymorphic variant of UCH-L1 that is associated with decreased PD risk (S18Y) has reduced ligase activity but comparable hydrolase activity as the wild-type enzyme.
|
12408865 |
2002 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
UCH-L1 S18Y polymorphism, however, may be a weak protective factor against early-onset PD.
|
12210873 |
2002 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
We found that homozygosity for the V66M polymorphism of the brain-derived neurotrophic factor (BDNF) gene occurs more frequently in patients with Parkinson's disease than in unaffected controls (chi(2) = 5.46) and confirmed an association with the S18Y polymorphism of the UCH-L1 gene.
|
11782995 |
2002 |