|
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease.
|
16511860 |
2006 |
|
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The "common" LRRK2 G2019S kinase domain substitution has been reported to account for approximately 5% of familial and 1% of sporadic Parkinson disease.
|
16966501 |
2006 |
|
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The G2019S mutation is the most common pathogenic substitution in the leucine-rich repeat kinase 2 (LRRK2) gene, which has recently been identified in familial and sporadic Parkinson disease (PD).
|
16966502 |
2006 |
|
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The prevalence of G2019S mutation in unselected late-onset PD patients might be higher than previously reported: 3/16 (18.7%) of familial PD and 5/82 (6.1%) of sporadic PD.
|
16298482 |
2006 |
|
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The most common mutation, a heterozygous 6055 G>A transition (G 2019 S) accounts for approximately 3--10% of familial Parkinson's disease and 1--8% sporadic Parkinson's disease in several European-derived populations.
|
16102903 |
2005 |
|
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
One mutation, G2019S, is found in a significant percentage of cases, including sporadic Parkinson's disease.
|
16280683 |
2005 |
|
rs34778348
|
|
|
0.090 |
GeneticVariation |
BEFREE |
We find that structure-based and PD-associated disease mutations in the WD40 domain including the common G2385R polymorphism mainly compromise dimer formation.
|
30635421 |
2019 |
|
rs34778348
|
|
|
0.090 |
GeneticVariation |
BEFREE |
LRRK2 p.G2385R is an Asian specific genetic risk factor for sporadic Parkinson's disease.
|
29414410 |
2018 |
|
rs34778348
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Considering that there is overlap of the clinical manifestations and pathological characteristics between PD and MSA, we studied the possible associations between R1628P and G2385R polymorphisms of the LRRK2 and MSA in a population of Han Chinese patients.
|
25511328 |
2015 |
|
rs34778348
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Association between G2385R and R1628P polymorphism of LRRK2 gene and sporadic Parkinson's disease in a Han-Chinese population in south-eastern China.
|
23624603 |
2013 |
|
rs34778348
|
|
|
0.090 |
GeneticVariation |
BEFREE |
LRRK2 Gly2385Arg polymorphism, cigarette smoking, and risk of sporadic Parkinson's disease: a case-control study in Japan.
|
20673920 |
2010 |
|
rs34778348
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The LRRK2 G2385R variant is a risk factor for sporadic Parkinson's disease in the Korean population.
|
19854095 |
2010 |
|
rs34778348
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The c.G4883C variant in the leucine-rich repeat kinase 2 (LRRK2) gene (protein effect: Arg1628Pro) has been recently proposed as a second risk factor for sporadic Parkinson's disease in the Han Chinese population (after the Gly2385Arg variant).
|
18716801 |
2008 |
|
rs34778348
|
|
|
0.090 |
GeneticVariation |
BEFREE |
LRRK2 low-penetrance mutations (Gly2019Ser) and risk alleles (Gly2385Arg)-linking familial and sporadic Parkinson's disease.
|
17440812 |
2007 |
|
rs34778348
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Our results suggest that the G2385R variant is a risk factor for sporadic Parkinson disease in the Asian population.
|
17314670 |
2007 |
|
rs33939927
|
|
|
0.060 |
GeneticVariation |
BEFREE |
On the other hand, the constitutive mutant of LRRK2(R1441G), known to cause PD, leads to down-regulation of the same pathway.
|
23600457 |
2013 |
|
rs33939927
|
|
|
0.060 |
GeneticVariation |
BEFREE |
In addition, introduction of miR-205 prevented the neurite outgrowth defects in the neurons expressing a PD-related LRRK2 R1441G mutant.
|
23125283 |
2013 |
|
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 |
|
rs33939927
|
|
|
0.060 |
GeneticVariation |
BEFREE |
LRRK2 G2019S and R1441C mutations associated with PD were not an uncommon mutation in a Sardinian population, especially in sporadic PD patients.
|
18805725 |
2009 |
|
rs33939927
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease.
|
18337586 |
2008 |
|
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 |
|
rs33939927
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Pathogenic substitutions in the leucine-rich repeat kinase 2 protein (Lrrk2), R1441G and G2019S, are a prevalent cause of autosomal dominant and sporadic Parkinson's disease in the Northern Spanish population.
|
17614198 |
2007 |
|
rs5030732
|
|
|
0.060 |
GeneticVariation |
BEFREE |
We investigated the association of S18Y in our Swedish PD material.
|
17287139 |
2007 |
|
rs33939927
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Notably, one single mutation in this gene (R1441G) not only appeared in familial, but also in apparently sporadic Parkinson disease (PD) patients of Basque descent.
|
16991141 |
2006 |
|
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 |