|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
One mutation, G2019S, is found in a significant percentage of cases, including sporadic Parkinson's disease.
|
16280683 |
2005 |
|
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 |
|
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 |
Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease.
|
16511860 |
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 |
|
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 |
|
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 |
|
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 |
The purpose of this study was to examine the frequency of a single pathogenic mutation (6055G > A) in the kinase domain of this gene in United States and Tunisian familial PD and to compare clinical characteristics between patients with and without the mutation.
|
17115391 |
2007 |
|
rs7669
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In two independent case-control collectives, the c.798C>T polymorphism of the MTIF3 gene showed allelic association with PD, with a maximal significance of p=0.0073.
|
17267121 |
2007 |
|
rs5030732
|
|
|
0.060 |
GeneticVariation |
BEFREE |
We investigated the association of S18Y in our Swedish PD material.
|
17287139 |
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 |
|
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 |