rs1801474
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Association of codon 167 Ser/Asn heterozygosity in the parkin gene with sporadic Parkinson's disease.
|
10511432 |
1999 |
rs4866
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A valine to methionine polymorphism at codon 83 in the 8-oxo-dGTPase gene MTH1 is not associated with sporadic Parkinson's disease.
|
11136354 |
2000 |
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 |
rs104893877
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The clinical characteristics of 15 patients with PD living in Greece with the Ala53Thr alpha-synuclein mutation (alpha-synPD) were compared with patients with sporadic Parkinson's disease (sPD).
|
11309462 |
2001 |
rs56285021
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A putative polymorphic Val44Ala variation in the synphilin-1 gene is undetectable in Japanese sporadic Parkinson's disease patients.
|
11784370 |
2002 |
rs104893877
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We report here the immunohistochemical, biochemical and ultrastructural characterization of alpha-syn neuropathology in a case of familial PD with the A53T alpha-syn gene mutation.
|
15144854 |
2004 |
rs767543900
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report here the immunohistochemical, biochemical and ultrastructural characterization of alpha-syn neuropathology in a case of familial PD with the A53T alpha-syn gene mutation.
|
15144854 |
2004 |
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 |
rs141366047
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Geographic and ethnic differences in frequencies of two polymorphisms (D/N394 and L/I272) of the parkin gene in sporadic Parkinson's disease.
|
16269266 |
2005 |
rs1801334
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Geographic and ethnic differences in frequencies of two polymorphisms (D/N394 and L/I272) of the parkin gene in sporadic Parkinson's disease.
|
16269266 |
2005 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The frequency of the G2019S mutation was greater in familial PD (2 [3.9%] of 51) than in sporadic PD (1 [0.6%] of 157).
|
17044089 |
2006 |
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 |
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 |
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 |
rs7702187
|
|
|
0.010 |
GeneticVariation |
BEFREE |
It can be concluded that rs7702187 SNP in Sema5a gene is not a marker of PD risk in the studied populations.
|
16481103 |
2006 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our data suggest that the LRRK2 G2019S mutation plays an important role in the causality of familial and sporadic Parkinson disease (PD) in Israel and that gender affects its frequency among patients.
|
17938369 |
2007 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Mutations in leucine-rich repeat kinase 2 gene (LRRK2), particularly the G2019S mutation in exon 41, have been detected in familial and sporadic Parkinson disease (PD) cases.
|
17353388 |
2007 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
LRRK2 low-penetrance mutations (Gly2019Ser) and risk alleles (Gly2385Arg)-linking familial and sporadic Parkinson's disease.
|
17440812 |
2007 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The G2019S LRRK2 mutation is uncommon amongst Greek patients with sporadic Parkinson's disease.
|
17880562 |
2007 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The G2019S substitution in LRRK2 is the most common genetic determinant of PD identified so far, and maps to a specific region of the kinase domain called the activation segment.
|
17584768 |
2007 |