|
rs1801474
|
|
Parkinson Disease
|
|
0.050 |
GeneticVariation
|
BEFREE |
The IVS4 + 30T>G, Ser167Asn (G>A) and Val380Leu (G>C) polymorphisms appeared to alter element concentrations in PD.
|
31512170 |
2020 |
|
rs1801474
|
|
Parkinson Disease
|
|
0.050 |
GeneticVariation
|
BEFREE |
To study the role of PARKIN polymorphisms as risk factors for PD in a genetically homogeneous northeastern Mexican population, four previously described coding polymorphisms (Ser167Asn, Val380Leu, Arg366Trp, and Asp394Asn) were analyzed by using the PCR-RFLP technique.
|
19909784 |
2010 |
|
rs1801474
|
|
Parkinson Disease
|
|
0.050 |
GeneticVariation
|
BEFREE |
We analysed Ser167Asn in 116 patients with sporadic PD and 124 controls, matched for age and gender.
|
12584415 |
2003 |
|
rs1801474
|
|
Parkinson Disease
|
|
0.050 |
GeneticVariation
|
BEFREE |
To study the potential involvement of the parkin gene in development of non-hereditary idiopathic PD, a codon 167 serine/asparagine (167S/N) polymorphism located in its exon 4 was analyzed by direct sequencing in 71 patients with sporadic PD and 109 age-matched non-PD controls.
|
10511432 |
1999 |
|
rs1801474
|
|
Parkinson Disease
|
|
0.050 |
GeneticVariation
|
BEFREE |
In order to analyse the association of PD with these and two previously described polymorphisms (1281 G/A, Asp394Asn, and 601 G/A, Ser167Asn) we genotyped 105 patients and 150 healthy controls.
|
12165399 |
2002 |
|
rs1801582
|
|
Parkinson Disease
|
|
0.030 |
GeneticVariation
|
BEFREE |
The IVS4 + 30T>G, Ser167Asn (G>A) and Val380Leu (G>C) polymorphisms appeared to alter element concentrations in PD.
|
31512170 |
2020 |
|
rs1801582
|
|
Parkinson Disease
|
|
0.030 |
GeneticVariation
|
BEFREE |
Furthermore, only stratified subanalyses detected any genetic association between the V380L common coding polymorphism and PD.
|
14639672 |
2003 |
|
rs1801582
|
|
Parkinson Disease
|
|
0.030 |
GeneticVariation
|
BEFREE |
Our results indicate that co-occurrence of G/G V380L PARK2 and G/G rs2306604 TFAM on the prooxidative HV cluster background can contribute to PD risk.
|
22361577 |
2012 |
|
rs9347683
|
|
Parkinson Disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
In addition, homozygosity for the minor allele of rs9347683 may significantly reduce the age of onset of PD.
|
18387843 |
2009 |
|
rs9347683
|
|
Parkinson Disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
A functional SNP (rs9347683) in the promoter region of the parkin gene had been implicated as a risk factor in older Parkinson's disease (PD) patients.
|
21176923 |
2011 |
|
rs34424986
|
|
Parkinson Disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
A total of two heterozygous mutations in exon 7 (R275W; 0.2%) were detected in the PD group, but none were found in controls.
|
16019250 |
2005 |
|
rs34424986
|
|
Parkinson Disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C>T and EX6 del) in the PARK2 gene.
|
29353703 |
2018 |
|
rs1801334
|
|
Parkinson Disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
In order to analyse the association of PD with these and two previously described polymorphisms (1281 G/A, Asp394Asn, and 601 G/A, Ser167Asn) we genotyped 105 patients and 150 healthy controls.
|
12165399 |
2002 |
|
rs1801334
|
|
Parkinson Disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
To study the role of PARKIN polymorphisms as risk factors for PD in a genetically homogeneous northeastern Mexican population, four previously described coding polymorphisms (Ser167Asn, Val380Leu, Arg366Trp, and Asp394Asn) were analyzed by using the PCR-RFLP technique.
|
19909784 |
2010 |
|
rs1438259227
|
|
Parkinson Disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
The A53T mutation in the SNCA gene, although uncommon, does represent a cause of PD in the Greek population, especially of familial EOPD with autosomal dominant inheritance.
|
24313877 |
2014 |
|
rs1438259227
|
|
Parkinson Disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
A missense mutation of SNCA (A53T) was found in a familial PD with autosomal dominant inheritance.
|
18704525 |
2008 |
|
rs778798543
|
|
Parkinson Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
These include five missense mutations (Gln34Arg, Arg42Cys, Arg42His, Tyr143Cys and Arg334Cys) detected in eight patients in heterozygous condition and a homozygous deletion encompassing exons 3 and 4 in two sibs affected with PD.
|
16793319 |
2006 |
|
rs766948045
|
|
Parkinson Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C>T and EX6 del) in the PARK2 gene.
|
29353703 |
2018 |
|
rs754604402
|
|
Parkinson Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The clinical relevance of our findings is substantiated by the discovery of homozygous PARKIN (<i>PARK2</i>) p.S65N mutations in two unrelated patients with PD.
|
30404819 |
2018 |
|
rs72480422
|
|
Parkinson Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
In the present study, the D280N variant was observed in three early onset PD-affected siblings and was not present in a 63-year-old unaffected sibling.
|
18514563 |
2009 |
|
rs62637702
|
|
Parkinson Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
In conclusion, the rs62637702 polymorphism was associated with PD.
|
23275044 |
2013 |
|
rs571092914
|
|
Parkinson Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Linking a compound-heterozygous Parkin mutant (Q311R and A371T) to Parkinson's disease by using proteomic and molecular approaches.
|
25865804 |
2016 |
|
rs56092260
|
|
Parkinson Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
A polymorphism of R/W366 in the Parkin gene was found to be associated with a protective factor for sporadic PD.
|
10965160 |
2000 |
|
rs377591051
|
|
Parkinson Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Considering the potential interest of the skin as a target for the development of biomarkers in Parkinson's Disease (PD), in this work we aimed to evaluate structural and functional integrity of small autonomic nerve fibers and phosphorylated alpha-synuclein (p-synuclein) deposition in the skin of E46K-SNCA carriers as compared to those observed in parkin gene mutation (PARK2) carriers and healthy controls.
|
31178336 |
2019 |
|
rs368134308
|
|
Parkinson Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
These include five missense mutations (Gln34Arg, Arg42Cys, Arg42His, Tyr143Cys and Arg334Cys) detected in eight patients in heterozygous condition and a homozygous deletion encompassing exons 3 and 4 in two sibs affected with PD.
|
16793319 |
2006 |