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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 |
|
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 |
|
rs104893877
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Furthermore, to enhance the pathological properties of α-synuclein, we inserted into SNCA an A53T mutation, two single-nucleotide polymorphisms identified in a genome-wide association study in Parkinson's disease and a Rep1 polymorphism, all of which are causal of familial Parkinson's disease or increase the risk of sporadic Parkinson's disease.
|
31816026 |
2020 |
|
rs104893877
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Here we generated de novo induced pluripotent stem cells (iPSCs) from patients harboring the p.A53T mutation and developed a robust model that captures PD pathogenic processes under basal conditions. iPSC-derived mutant neurons displayed novel disease-relevant phenotypes, including protein aggregation, compromised neuritic outgrowth, and contorted or fragmented axons with swollen varicosities containing αSyn and Tau.
|
28416701 |
2017 |
|
rs1052133
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The hOGG1 Ser326Cys polymorphism is not associated with sporadic Parkinson's disease.
|
20193742 |
2010 |
|
rs10746953
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We revealed that among the 22 potential loci implicated, PRDM2/KIAA1026 (kgp8090149), TSG1/MANEA (kgp154172), PDE10A (kgp8130520), MDGA2 (rs9323124), ATPBD4/LOC100288892 (kgp11333367), ZFP64/TSHZ2 (kgp4156164), PAQR3/ARD1B (kgp9482779), FLJ23172/FNDC3B (kgp760898), C18orf1 (kgp348599), FLJ43860/NCRNA00051 (kgp4105983), CYP1B1/C2orf58 (kgp11353523), WNT9A/LOC728728 (rs849898), ANXA1/LOC100130911 (rs10746953), FLJ35379/LOC100132423 (kgp9550589), PLEKHN1 (kgp7172368), DMRT2/SMARCA2 (kgp10769919), ZNF396/INO80C (rs1362858), C3orf67/LOC339902 (rs6783485), LOC285194/IGSF11 (rs1879553), FGF10/MRPS30 (rs13153459), BARX1/PTPDC1 (kgp6542803), and COL5 A2 (rs11186), the peak significance was at the kgp4105983 of FLJ43860 gene in chromosome 8, the first top strongest associated locus with sPD was PRDM2 (kgp8090149) in chromosome 1, and the 24 pathways including 100 significantly associated genes were strongly associated with sPD from HPCM.
|
26227905 |
2016 |
|
rs10788972
|
|
|
0.010 |
GeneticVariation |
BEFREE |
TCEANC2 rs10788972 and rs12046178 variants in the PARK10 region in Chinese Han patients with sporadic Parkinson's disease.
|
26432391 |
2015 |
|
rs11186
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We revealed that among the 22 potential loci implicated, PRDM2/KIAA1026 (kgp8090149), TSG1/MANEA (kgp154172), PDE10A (kgp8130520), MDGA2 (rs9323124), ATPBD4/LOC100288892 (kgp11333367), ZFP64/TSHZ2 (kgp4156164), PAQR3/ARD1B (kgp9482779), FLJ23172/FNDC3B (kgp760898), C18orf1 (kgp348599), FLJ43860/NCRNA00051 (kgp4105983), CYP1B1/C2orf58 (kgp11353523), WNT9A/LOC728728 (rs849898), ANXA1/LOC100130911 (rs10746953), FLJ35379/LOC100132423 (kgp9550589), PLEKHN1 (kgp7172368), DMRT2/SMARCA2 (kgp10769919), ZNF396/INO80C (rs1362858), C3orf67/LOC339902 (rs6783485), LOC285194/IGSF11 (rs1879553), FGF10/MRPS30 (rs13153459), BARX1/PTPDC1 (kgp6542803), and COL5 A2 (rs11186), the peak significance was at the kgp4105983 of FLJ43860 gene in chromosome 8, the first top strongest associated locus with sPD was PRDM2 (kgp8090149) in chromosome 1, and the 24 pathways including 100 significantly associated genes were strongly associated with sPD from HPCM.
|
26227905 |
2016 |
|
rs112176450
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results suggest that the Asp620Asn mutation in VPS35 and the Arg1205His mutation in EIF4G1 do not play a role in PD in the Southwest China population.
|
23261770 |
2013 |
|
rs11868035
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Association analysis of SNP rs11868035 in SREBF1 with sporadic Parkinson's disease, sporadic amyotrophic lateral sclerosis and multiple system atrophy in a Chinese population.
|
29128630 |
2018 |
|
rs11931074
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We evaluated the association between SNCA single nucleotide polymorphisms (single nucleotide polymorphisms, SNPs - rs2583988, rs356219, rs2736990, and rs11931074) and PD risk in a Brazilians sample.
|
28676755 |
2017 |
|
rs12046178
|
|
|
0.010 |
GeneticVariation |
BEFREE |
TCEANC2 rs10788972 and rs12046178 variants in the PARK10 region in Chinese Han patients with sporadic Parkinson's disease.
|
26432391 |
2015 |
|
rs1217691063
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MTHFR C677T variant reduces risk of sporadic Parkinson's disease in ethnic Chinese.
|
24628244 |
2014 |
|
rs121917767
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We propose that aberrant interactions of UCH-L1 variants with CMA machinery, at least partly, underlie the pathogenesis of I93M UCH-L1-associated PD, and possibly of sporadic PD.
|
18635949 |
2008 |
|
rs13153459
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We revealed that among the 22 potential loci implicated, PRDM2/KIAA1026 (kgp8090149), TSG1/MANEA (kgp154172), PDE10A (kgp8130520), MDGA2 (rs9323124), ATPBD4/LOC100288892 (kgp11333367), ZFP64/TSHZ2 (kgp4156164), PAQR3/ARD1B (kgp9482779), FLJ23172/FNDC3B (kgp760898), C18orf1 (kgp348599), FLJ43860/NCRNA00051 (kgp4105983), CYP1B1/C2orf58 (kgp11353523), WNT9A/LOC728728 (rs849898), ANXA1/LOC100130911 (rs10746953), FLJ35379/LOC100132423 (kgp9550589), PLEKHN1 (kgp7172368), DMRT2/SMARCA2 (kgp10769919), ZNF396/INO80C (rs1362858), C3orf67/LOC339902 (rs6783485), LOC285194/IGSF11 (rs1879553), FGF10/MRPS30 (rs13153459), BARX1/PTPDC1 (kgp6542803), and COL5 A2 (rs11186), the peak significance was at the kgp4105983 of FLJ43860 gene in chromosome 8, the first top strongest associated locus with sPD was PRDM2 (kgp8090149) in chromosome 1, and the 24 pathways including 100 significantly associated genes were strongly associated with sPD from HPCM.
|
26227905 |
2016 |
|
rs1320254777
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further research is needed to study the contribution of the novel found mutation p.R32S in VPS35 to the pathogenesis of PD.
|
26518746 |
2016 |
|
rs1362858
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We revealed that among the 22 potential loci implicated, PRDM2/KIAA1026 (kgp8090149), TSG1/MANEA (kgp154172), PDE10A (kgp8130520), MDGA2 (rs9323124), ATPBD4/LOC100288892 (kgp11333367), ZFP64/TSHZ2 (kgp4156164), PAQR3/ARD1B (kgp9482779), FLJ23172/FNDC3B (kgp760898), C18orf1 (kgp348599), FLJ43860/NCRNA00051 (kgp4105983), CYP1B1/C2orf58 (kgp11353523), WNT9A/LOC728728 (rs849898), ANXA1/LOC100130911 (rs10746953), FLJ35379/LOC100132423 (kgp9550589), PLEKHN1 (kgp7172368), DMRT2/SMARCA2 (kgp10769919), ZNF396/INO80C (rs1362858), C3orf67/LOC339902 (rs6783485), LOC285194/IGSF11 (rs1879553), FGF10/MRPS30 (rs13153459), BARX1/PTPDC1 (kgp6542803), and COL5 A2 (rs11186), the peak significance was at the kgp4105983 of FLJ43860 gene in chromosome 8, the first top strongest associated locus with sPD was PRDM2 (kgp8090149) in chromosome 1, and the 24 pathways including 100 significantly associated genes were strongly associated with sPD from HPCM.
|
26227905 |
2016 |
|
rs1366901063
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We propose that aberrant interactions of UCH-L1 variants with CMA machinery, at least partly, underlie the pathogenesis of I93M UCH-L1-associated PD, and possibly of sporadic PD.
|
18635949 |
2008 |
|
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 |
|
rs1414323823
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To conclude, CYP1A1 m1, COMT p.H108L polymorphisms were associated with PD risk, and sexual dimorphism was observed in these associations.
|
24389856 |
2014 |
|
rs142444896
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Meta-analysis of our data with studies in the literature showed that p.Pro2Leu variants were associated with sporadic PD (OR 2.51, 95%CI 1.53 to 4.11, p = 0.0002), especially in Asian populations (OR 2.92, 95%CI 1.68 to 5.07, p = 0.0001).
|
27269965 |
2016 |
|
rs142444896
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Two single nucleotide variants (-9T>G and 5C>T) in CHCHD2 were confirmed to have different frequencies between sporadic Parkinson's disease and controls, with odds ratios of 2·51 (95% CI 1·48-4·24; p=0·0004) and 4·69 (1·59-13·83, p=0·0025), respectively.
|
25662902 |
2015 |
|
rs1559085
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recent studies point to an association between the late-onset sporadic Parkinson's disease (PD) and single nucleotide polymorphisms (SNPs) rs1559085 and rs27852 in Ca(2+)-dependent protease calpain inhibitor calpastatin (CAST) gene.
|
23951044 |
2013 |
|
rs1801133
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Association of the rs1801133 variant in the MTHFR gene and sporadic Parkinson's disease.
|
25909872 |
2015 |
|
rs1801133
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Association of the MTHFR rs1801131 and rs1801133 variants in sporadic Parkinson's disease patients.
|
26806866 |
2016 |