|
rs3822086
|
|
|
0.730 |
GeneticVariation |
BEFREE |
In addition, rs3822086 polymorphism was found to be related to PD in the allelic (OR = 1.249, 95% CI: 1.099-1.419, p = 0.001), homozygous (OR = 1.479, 95% CI: 1.142-1.915, p = 0.003), heterozygous (OR = 1.292, 95% CI: 1.033-1.615, p = 0.025) and dominant (OR = 1.331, 95% CI: 1.030-1.719, p = 0.029) models.
|
31325583 |
2019 |
|
rs3822086
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Our findings demonstrate that the SNCA rs3822086 C>T polymorphism correlates with increased susceptibility to PD among the Chinese Han population.
|
26203864 |
2015 |
|
rs3822086
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Our results suggest that the rs3822086 (C) allele and rs11931074 (G) allele in SNCA decrease the risk for PD, and SNCA rs11931074 may affect frontal lobe dysfunction of MSA in the Chinese population.
|
26208350 |
2015 |
|
rs7684318
|
|
|
0.730 |
GeneticVariation |
BEFREE |
There were no significant relationships between SNP rs356229, rs356219, or rs7684318 and the risk of sporadic PD in any genetic model.
|
22425546 |
2012 |
|
rs7684318
|
|
|
0.730 |
GeneticVariation |
BEFREE |
In two independent case-control populations, we found that a SNP in alpha-synuclein (SNCA), r</span>s7684318, showed the strongest association with PD (P=5.0 x 10(-10)).
|
16500997 |
2006 |
|
rs7684318
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Our findings suggested that the SNP rs7684318 (T>C) transition of the SNCA gene contributes to PD susceptibility in Chinese Han population, which is consistent with the earlier study form Japan.
|
20513365 |
2010 |
|
rs2583988
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The three single nucleotide polymorphisms (SNPs) of the promoter region (rs2583988, rs2619364, rs2619363) and a SNP in the 3'UTR (rs356165) of the SNCA gene showed the greatest evidence for an association with PD (p <or= 0.003), with significant pairwise values for linkage disequilibrium (D' >or= 0.74, r (2) >or= 0.29).
|
17872362 |
2007 |
|
rs2583988
|
|
|
0.720 |
GeneticVariation |
BEFREE |
There was a trend toward association between variation at rs2583988 and rapid PD progression.
|
19890971 |
2009 |
|
rs2737029
|
|
|
0.720 |
GeneticVariation |
BEFREE |
After narrowing down the variants using the <i>p</i> < 1 × 10<sup>-5</sup> cutoff, in overall populations, seven SNPs increased the risk of PD (rs2736990, rs356220, rs356165, rs181489, rs356219, rs11931074, and rs2737029, with odds ratios [ORs] of 1.22-1.38) and one SNP decreased the risk (rs356186, with an OR of 0.77).
|
30410434 |
2018 |
|
rs2737029
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Using a two-sided chi(2) test, we found significant association of rs2737029 (P=0.003; chi(2)=9.07) and rs356204 (P=0.048; chi(2)=3.91) with disease, strengthening the involvement of SNCA polymorphisms in sporadic PD.
|
18606870 |
2008 |
|
rs894278
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The SNP rs894278 confers risk via a dominant model and an additive model, whereas the minor allele G of rs11931074 reduces the risk of PD progression.
|
23853107 |
2013 |
|
rs894278
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Our findings show that rs894278 and PD status interactively affect the brain activity of PD patients and HCs, and changes in the brain connectomes may play a key role in the pathogenesis of P</span>D.
|
30778284 |
2019 |
|
rs181489
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Significant association was found between PD and the following SNPs: rs181489, rs356186, rs356219, rs894278 rs2583988, rs2619364, rs10005233 and rs11931074.
|
25656566 |
2015 |
|
rs356168
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Recently, the PD-risk allele, rs356168-G was shown to increase <i>SNCA</i>-mRNA expression using genome edited human induced pluripotent stem cells (iPSC)-derived neurons.
|
28979294 |
2017 |
|
rs356204
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Using a two-sided chi(2) test, we found significant association of rs2737029 (P=0.003; chi(2)=9.07) and rs356204 (P=0.048; chi(2)=3.91) with disease, strengthening the involvement of SNCA polymorphisms in sporadic PD.
|
18606870 |
2008 |
|
rs356221
|
|
|
0.710 |
GeneticVariation |
BEFREE |
This study showed that two SNPs near the promoter region (rs2301134 and rs2301135) of SNCA gene gave the greatest evidence for an association with PD (p ≤ 0.01) and a haplotype block with two SNPs in the 3' UTR (rs356221 and rs11931074) revealed another evidence of association (p ≤ 0.02).
|
23182315 |
2013 |
|
rs3775439
|
|
|
0.710 |
GeneticVariation |
BEFREE |
A number of SNCA variants, not including rs10014396 or rs3775439, were significantly associated with susceptibility to PD.
|
22912757 |
2012 |
|
rs3857059
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Our data contribute to the elucidation of the link between rs3857059 and susceptibility to PD observed in the Mexican Mestizo population.
|
27332068 |
2016 |
|
rs104893875
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Parkinson disease mutant E46K enhances α-synuclein phosphorylation in mammalian cell lines, in yeast, and in vivo.
|
25657004 |
2015 |
|
rs104893875
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Three point mutants (A30P, A53T, and E46K) found in familial Parkinson disease also inhibited WPB exocytosis similar to that of wild-type alpha-synuclein.
|
20448034 |
2010 |
|
rs104893875
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Patients with idiopathic Parkinson's disease (n = 63), dementia with Lewy bodies (n = 8), and E46K mutation carriers in the α-synuclein gene (E46K-SNCA) (n = 4) and 34 controls underwent Spectralis optical coherence tomography macular scans and a comprehensive battery of visual function and cognition tests.
|
31136022 |
2019 |
|
rs104893875
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Three familial variants of the presynaptic protein alpha-synuclein (alphaS), A30P, E46K, and A53T, correlate with rare inherited Parkinson's disease (PD), while wild-type alphaS is implicated in sporadic PD.
|
20041693 |
2010 |
|
rs104893875
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Duplication, triplication or genetic mutations in α-syn (A53T, A30P and E46K) are linked to autosomal dominant PD; thus implicating its role in the pathogenesis of PD.
|
23936403 |
2013 |
|
rs104893875
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our findings add new insight into the preexisting information about α-synuclein p.E46K, improving our understanding about the endophenotypes associated to this mutation and corroborate that missense alterations and multiplications in α-synuclein are uncommon among Brazilian patients with Parkinson's disease.
|
25817515 |
2015 |
|
rs104893875
|
|
|
0.100 |
GeneticVariation |
BEFREE |
α-Synuclein (α-syn) is a synaptic protein in which four mutations (A53T, A30P, E46K and gene triplication) have been found to cause an autosomal dominant form of Parkinson's disease (PD).
|
22701661 |
2012 |