Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1481318368
rs1481318368
TH
0.090 GeneticVariation BEFREE Taken together, GP-EX, including gypenosides, has ameliorative effects on dopaminergic neuronal cell death due to the overexpression of α-synuclein by modulating ERK1/2, Bad at Ser112, and JNK1/2 signaling in the midbrain of A53T mouse model of PD. 31552910

2020

dbSNP: rs1481318368
rs1481318368
TH
0.090 GeneticVariation BEFREE Caffeic acid reduces A53T α-synuclein by activating JNK/Bcl-2-mediated autophagy in vitro and improves behaviour and protects dopaminergic neurons in a mouse model of Parkinson's disease. 31707034

2019

dbSNP: rs1481318368
rs1481318368
TH
0.090 GeneticVariation BEFREE NCX1 and NCX3 as potential factors contributing to neurodegeneration and neuroinflammation in the A53T transgenic mouse model of Parkinson's Disease. 29941946

2018

dbSNP: rs1481318368
rs1481318368
TH
0.090 GeneticVariation BEFREE A53T) are known to be directly associated with Parkinson's disease (PD). 28442946

2017

dbSNP: rs1481318368
rs1481318368
TH
0.090 GeneticVariation BEFREE Concurrent staining with human PD SN samples using gold standard histological methodology for Lewy pathology detection by proteinase K digestion and application of specific antibody raised against human Lewy body α-synuclein (LB509) and Ser129 phosphorylated α-synuclein (81A) revealed insoluble α-synuclein aggregates in AAV1/2-A53T α-synuclein mice resembling Lewy-like neurites and bodies. 28143577

2017

dbSNP: rs1481318368
rs1481318368
TH
0.090 GeneticVariation BEFREE In this study, we developed a new PD model in the transgenic mice expressing mutant hemizygous (hemi) or homozygous (homo) A53T α-synuclein (α-syn Tg) and their wildtype (WT) littermates by treatment with sub-toxic (10 mg/kg, i.p., daily for 5 days) or toxic (30 mg/kg, i.p., daily for 5 days) dose of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP). 29200905

2017

dbSNP: rs1481318368
rs1481318368
TH
0.090 GeneticVariation BEFREE Microtubule disruption or co-transfection with α-synuclein A53T, a PD-associated mutation, caused TH1-S31E accumulation in the cell soma. 28637871

2017

dbSNP: rs1481318368
rs1481318368
TH
0.090 GeneticVariation BEFREE We previously found that aging A53T transgenic (Tg) mice closely model PD-like ENS aSyn pathology, making them appropriate for testing potential PD therapies. 27528608

2016

dbSNP: rs1481318368
rs1481318368
TH
0.090 GeneticVariation BEFREE Neuronal expression of familial Parkinson's disease A53T α-synuclein causes early motor impairment, reduced anxiety and potential sleep disturbances in mice. 23938351

2013

dbSNP: rs6356
rs6356
TH
0.040 GeneticVariation BEFREE Our results indicate that to analyze the relationship between dopa-responsive dystonia-related genes and PD, it is important to screen GCH1 and test rs6356 of TH in a larger sample. 29724574

2018

dbSNP: rs6356
rs6356
TH
0.040 GeneticVariation BEFREE PD subjects homozygous for the common V81M polymorphism, have higher overall freezing of gait scores after controlling for disease duration, although this polymorphism does not associate with the occurrence of PD or FOG. 26732803

2016

dbSNP: rs6356
rs6356
TH
0.040 GeneticVariation BEFREE There was no significant allelic or genotypic association of the Val81Met polymorphism with schizophrenia or PD. 9613851

1998

dbSNP: rs6356
rs6356
TH
0.040 GeneticVariation BEFREE A common amino-acid polymorphism in COMT, valine-108-methionine, results in a low activity form of the enzyme which we hypothesised may influence susceptibility to IPD. 8941353

1996

dbSNP: rs121917763
rs121917763
TH
0.010 GeneticVariation BEFREE The Leu205Pro polymorphism was examined by using PCR and digestion by AluI; however, there was no individual who carried the mutated type of Pro205 among 50 schizophrenics or 50 patients with PD. 9613851

1998