|
rs112384084
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
<b>Conclusions:</b> Clinical heterogeneity was observed among <i>LRRK2</i>-associated PD in different variants in total and in different ethnic groups, especially for G2019S and G2385R.
|
30283330 |
2018 |
|
rs72796353
|
|
|
0.010 |
GeneticVariation |
BEFREE |
<b>Objective:</b> This study aimed to explore the association between single nucleotide polymorphisms (SNPs) of nucleotide-binding oligomerization domain protein 2 (<i>NOD2</i>) gene and Parkinson's disease susceptibility, including IVS4 + 10A > C (rs72796353) and a missense mutation at exon 9 (c.2857A > G p.K953E).
|
31146602 |
2019 |
|
rs9468199
|
|
|
0.720 |
GeneticVariation |
BEFREE |
<b>Results:</b> rs8005172 of <i>GALC</i>, rs9468199 of <i>ZNF184</i> and rs34043159 of <i>IL1R2</i>, were associated with PD (rs8005172: <i>p</i> = 0.009, OR = 0.69, allele model, <i>p</i> = 0.010, additive model, <i>p</i> = 0.015, OR = 2.17, dominant model; <i>p</i> = 0.020, OR = 2.11, dominant model after adjustment; <i>p</i> = 0.036, OR = 1.47, recessive model after adjustment; rs9468199: <i>p</i> = 0.008, OR = 1.52, allele model, <i>p</i> = 0.008, additive model, <i>p</i> = 0.007, OR = 0.22, recessive model, <i>p</i> = 0.005, OR = 0.20, recessive model after adjustment; rs34043159: <i>p</i> = 0.034, OR = 1.31, allele model, <i>p</i> = 0.036, additive model).
|
30618709 |
2018 |
|
rs34043159
|
|
|
0.710 |
GeneticVariation |
BEFREE |
<b>Results:</b> rs8005172 of <i>GALC</i>, rs9468199 of <i>ZNF184</i> and rs34043159 of <i>IL1R2</i>, were associated with PD (rs8005172: <i>p</i> = 0.009, OR = 0.69, allele model, <i>p</i> = 0.010, additive model, <i>p</i> = 0.015, OR = 2.17, dominant model; <i>p</i> = 0.020, OR = 2.11, dominant model after adjustment; <i>p</i> = 0.036, OR = 1.47, recessive model after adjustment; rs9468199: <i>p</i> = 0.008, OR = 1.52, allele model, <i>p</i> = 0.008, additive model, <i>p</i> = 0.007, OR = 0.22, recessive model, <i>p</i> = 0.005, OR = 0.20, recessive model after adjustment; rs34043159: <i>p</i> = 0.034, OR = 1.31, allele model, <i>p</i> = 0.036, additive model).
|
30618709 |
2018 |
|
rs8005172
|
|
|
0.710 |
GeneticVariation |
BEFREE |
<b>Results:</b> rs8005172 of <i>GALC</i>, rs9468199 of <i>ZNF184</i> and rs34043159 of <i>IL1R2</i>, were associated with PD (rs8005172: <i>p</i> = 0.009, OR = 0.69, allele model, <i>p</i> = 0.010, additive model, <i>p</i> = 0.015, OR = 2.17, dominant model; <i>p</i> = 0.020, OR = 2.11, dominant model after adjustment; <i>p</i> = 0.036, OR = 1.47, recessive model after adjustment; rs9468199: <i>p</i> = 0.008, OR = 1.52, allele model, <i>p</i> = 0.008, additive model, <i>p</i> = 0.007, OR = 0.22, recessive model, <i>p</i> = 0.005, OR = 0.20, recessive model after adjustment; rs34043159: <i>p</i> = 0.034, OR = 1.31, allele model, <i>p</i> = 0.036, additive model).
|
30618709 |
2018 |
|
rs1024611
|
|
|
0.010 |
GeneticVariation |
BEFREE |
<b>Results:</b>We found that the frequency of the CCL2 genotype of rs1024611</span> was significantly different between the PD and control groups (<i>p</i> = 0.021), while the C allele was associated with a significantly increased risk in the PD group (<i>p</i> = 0.004).
|
30761072 |
2019 |
|
rs72470545
|
|
|
0.060 |
GeneticVariation |
BEFREE |
's study found that <i>HTRA2</i> p.G399S is responsible for hereditary essential tremor and homozygotes of this allele develop Parkinson's disease by examining a six-generation family segregating essential tremor and essential tremor coexisting with Parkinson's disease.
|
28243480 |
2017 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
1.Available evidence confirms that the LRRK2 variant rs34637584 is associated with less cognitive impairment in people with PD.2.GBA variants rs76763715 and rs421016 are associated with more severe cognitive impairment in people with PD.3.The GBA variants rs76763715, rs421016, rs387906315 and rs80356773 have been significantly associated with the onset of depressive symptoms in PD.
|
31292011 |
2020 |
|
rs76763715
|
|
|
0.100 |
GeneticVariation |
BEFREE |
1.Available evidence confirms that the LRRK2 variant rs34637584 is associated with less cognitive impairment in people with PD.2.GBA variants rs76763715 and rs421016 are associated with more severe cognitive impairment in people with PD.3.The GBA variants rs76763715, rs421016, rs387906315 and rs80356773 have been significantly associated with the onset of depressive symptoms in PD.
|
31292011 |
2020 |
|
rs421016
|
|
|
0.100 |
GeneticVariation |
BEFREE |
1.Available evidence confirms that the LRRK2 variant rs34637584 is associated with less cognitive impairment in people with PD.2.GBA variants rs76763715 and rs421016 are associated with more severe cognitive impairment in people with PD.3.The GBA variants rs76763715, rs421016, rs387906315 and rs80356773 have been significantly associated with the onset of depressive symptoms in PD.
|
31292011 |
2020 |
|
rs387906315
|
|
|
0.010 |
GeneticVariation |
BEFREE |
1.Available evidence confirms that the LRRK2 variant rs34637584 is associated with less cognitive impairment in people with PD.2.GBA variants rs76763715 and rs421016 are associated with more severe cognitive impairment in people with PD.3.The GBA variants rs76763715, rs421016, rs387906315 and rs80356773 have been significantly associated with the onset of depressive symptoms in PD.
|
31292011 |
2020 |
|
rs80356773
|
|
|
0.010 |
GeneticVariation |
BEFREE |
1.Available evidence confirms that the LRRK2 variant rs34637584 is associated with less cognitive impairment in people with PD.2.GBA variants rs76763715 and rs421016 are associated with more severe cognitive impairment in people with PD.3.The GBA variants rs76763715, rs421016, rs387906315 and rs80356773 have been significantly associated with the onset of depressive symptoms in PD.
|
31292011 |
2020 |
|
rs104893877
|
|
|
0.100 |
GeneticVariation |
BEFREE |
123I-FP-CIT SPECT [(123) I-2β-carbomethoxy-3β-(4-iodophenyl)-N-(3-fluoropropyl) nortropane single photon emission computed tomography] Imaging in a p.A53T α-synuclein Parkinson's disease cohort versus Parkinson's disease.
|
30288781 |
2018 |
|
rs1224426272
|
|
|
0.020 |
GeneticVariation |
BEFREE |
123I-FP-CIT SPECT [(123) I-2β-carbomethoxy-3β-(4-iodophenyl)-N-(3-fluoropropyl) nortropane single photon emission computed tomography] Imaging in a p.A53T α-synuclein Parkinson's disease cohort versus Parkinson's disease.
|
30288781 |
2018 |
|
rs104893878
|
|
|
0.100 |
GeneticVariation |
BEFREE |
6, 348-357; Xun, Z. Y., Sowell, R. A., Kaufman, T. C., and Clemmer, D. E. (2007) Lifetime proteomic profiling of an A30P alpha-synuclein Drosophila model of Parkinson's disease.J. Proteome Res.
|
18353766 |
2008 |
|
rs33949390
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Parkinson's disease onset age was similar in patients who carried the Arg1628Pro variant and in those who did not carry it.
|
18716801 |
2008 |
|
rs28938172
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Parkinson disease (PD)-associated genomic deletions and the destabilizing L166P point mutation lead to loss of the cytoprotective DJ-1 protein.
|
19293155 |
2009 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.
|
20197411 |
2010 |
|
rs28938172
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Parkinson's disease DJ-1 L166P alters rRNA biogenesis by exclusion of TTRAP from the nucleolus and sequestration into cytoplasmic aggregates via TRAF6.
|
22532838 |
2012 |
|
rs2942168
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Parkinson disease risk alleles in the MAPT (rs2942168; P = .0006) and CCDC62 (rs12817488; P = .004) loci were associated with global parkinsonism, and these associations remained after exclusion of patients with a PD diagnosis.
|
24514572 |
2014 |
|
rs12817488
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Parkinson disease risk alleles in the MAPT (rs2942168; P = .0006) and CCDC62 (rs12817488; P = .004) loci were associated with global parkinsonism, and these associations remained after exclusion of patients with a PD diagnosis.
|
24514572 |
2014 |
|
rs104893875
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Parkinson disease mutant E46K enhances α-synuclein phosphorylation in mammalian cell lines, in yeast, and in vivo.
|
25657004 |
2015 |
|
rs74315355
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Parkinson's disease-associated PINK1 G309D mutation increases abnormal phosphorylation of Tau.
|
25899925 |
2015 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Parkinson disease is noted for its association with mutations in GBA and the p.G2019S mutation in LRRK2.
|
26169695 |
2015 |