|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
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 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
SNCA Rep1 promoter variability influences cognition in Parkinson's disease.
|
31234238 |
2019 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Finally, possible genetic links between PD and RLS (the presence of allele 2 of the complex microsatellite repeat Rep1 within the α-synuclein gene promoter) and between Tourette syndrome and RLS (several variants in the <i>BTBD9</i> gene) have been reported in 2 case-control association studies, although these data, based on preliminary data with small sample sizes, need to be replicated in further studies.
|
31004074 |
2019 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
In this study, we focus on the SSR termed Rep1, which was associated with Parkinson's disease (PD) and has been implicated in the cis-regulation of the PD-risk SNCA gene.
|
29730780 |
2018 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
<i>SNCA</i> Rep1 263 allele is associated with a worse cognitive outcome in PD.
|
29662465 |
2018 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We found that the 265-, 269-, and 271-bp alleles of REP1 (using the nomenclature established by Xia et al.) increased the risk of PD (OR: 1.81, 1.05, 1.17; p: 0.0002, 0.003, 0.002) while the 267-bp allele decreased PD risk (OR: 0.86, p: <0.00001) when taking all populations into account.
|
29859327 |
2018 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Stepwise logistic regression model found that female sex, UPDRS part II score, motor fluctuation, GBA L1444P and SNCA Rep-1 variants collectively best predict depression in PD.
|
27745782 |
2016 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In summary, we confirmed that Rep1, rs356165, and rs11931074 in SNCA gene, G2385R in LRRK2 gene, rs4698412 in BST1 gene, rs1564282 in PARK17, and L444P in GBA gene have an independent and combined significant association with PD.
|
25623333 |
2015 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The longest size variant (allele 2) of the complex microsatellite repeat Rep1 within the SNCA gene promoter is known to confer a PD risk.
|
24863655 |
2014 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Paradoxically, REP1 genotypes associated with increased risk of developing PD and increased SNCA expression were associated with better motor (HR = 0.87, p = 0.046, covariate-adjusted age-scale analysis; HR = 0.85, p = 0.020, covariate-adjusted time-scale analysis) and cognitive outcomes (HR = 0.90, p = 0.12, covariate-adjusted age-scale analysis; HR = 0.85, p = 0.023, covariate-adjusted time-scale analysis).
|
24656894 |
2014 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We apply our method to two genome-wide association data sets and localize both the functional variant REP1 in the α-synuclein gene that conveys susceptibility to Parkinson's disease and the APOE gene responsible for the association signal in the Alzheimer's disease data set.
|
23736218 |
2014 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In our large consortium study, α-synuclein REP1 genotypes were not associated with survival in PD.
|
24578302 |
2014 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
While head injury alone was not associated with PD risk, our data suggest head injury may initiate and/or accelerate neurodegeneration when levels of synuclein are high, as in those with Rep1 expansion.
|
22275250 |
2012 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To determine whether α-synuclein NACP-Rep1 and tau genotypes can predict the rate of progression of Parkinson's disease.
|
23939307 |
2011 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our data suggest that 1 or more unidentified functional SNCA variants modify risk for PD and that the effect is larger than and independent of REP1.
|
21060011 |
2010 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Similar to recent meta- and pooled analyses, our data suggest a lower PD risk in subjects who were either homozygous or heterozygous for the SNCA REP1 259 genotype, and a higher risk in subjects who were either homozygous or heterozygous for the REP1 263 genotype, especially among subjects with an age of onset ≤68 years.
|
20664293 |
2010 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Neither aSN expression nor its NT-modifications showed any correlation to specific REP1 genotypes, polymorphic variants within aSN gene promoter whose association to PD susceptibility may occur through the modulation of aSN protein expression.
|
20399833 |
2010 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The expansion of SNCA-Rep1, an upstream, polymorphic microsatellite of the SNCA gene, is associated with elevated risk for sporadic PD.
|
19498036 |
2009 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The minor allele "G" at rs356165 was associated with increased odds of PD (P = 0.013) and genetic variation in D4S3481 (Rep1) was associated with age of disease onset (P = 0.007).
|
19890971 |
2009 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Whole gene duplications and triplications of alpha-synuclein (SNCA) can cause Parkinson's disease (PD), and variation in the promoter region (Rep1) and 3' region of SNCA has been reported to increase disease susceptibility.
|
19412953 |
2009 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our findings suggest that SNCA REP1 genotype and alcohol use disorders are independently associated with PD.
|
19196539 |
2009 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
We confirmed association of REP1 with PD risk [odds ratio (OR) = 0.86, P = 0.006 for 257-carriers; OR = 1.25, P = 0.022 for 261-carriers].
|
18404644 |
2008 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our objective was to test possible joint effects of SNCA REP1 genotypes and pesticide exposures on the risk of PD.
|
18322262 |
2008 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MAPT (P = 0.007), SNCA REP1 (P = 0.012), smoking (P = 0.001), and coffee (P = 0.011) were associated with PD risk.
|
18210157 |
2008 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Several markers located across the SNCA gene were associated with PD, including marker alleles associated with disease in previous studies (Rep1 263-bp allele, rs356165 and rs356219).
|
18485051 |
2008 |