rs34778348
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
In Asian populations, the Gly2019Ser mutation is rare or absent but two other LRRK2 variants, Gly2385Arg and Arg1628PPro, increase PD risk.
|
30133089 |
2019 |
rs34778348
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
G2019S variant is rare in Asian populations, whereas two other Asian-specific LRRK2 variants, G2385R and R1628P, are more frequent with a twofold increased risk of PD.
|
31041581 |
2019 |
rs34778348
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Studies on various global populations have determined that mutations such as G2019S, G2385R, and R1628P in LRRK2 increase the risk of developing PD while the N551K-R1398H haplotype is associated with conferring protection against developing PD.
|
31487119 |
2019 |
rs34778348
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Effect of LRRK2 G2385R Variant on Subthalamic Deep Brain Stimulation Efficacy in Parkinson's Disease in a Han Chinese Population.
|
31824408 |
2019 |
rs34778348
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Generation of 2 induced pluripotent stem cell lines derived from patients with Parkinson's disease carrying LRRK2 G2385R variant.
|
29414410 |
2018 |
rs34778348
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Leucine-rich repeat kinase 2 (LRRK2) has been recently identified as a causative gene of Parkinson's disease (PD), and the LRRK2 R1628P and G2385R mutations are common in ethnic Han-Chinese PD patients.
|
29567424 |
2018 |
rs34778348
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The observation of lower steady-state protein levels may explain why G2385R is a risk factor rather than a penetrant variant for inherited PD.
|
28320779 |
2017 |
rs34778348
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
After adjustment for demographics and associated clinical factors, the G2385R variant was associated with an increased risk for the presence of fatigue (OR = 10.699; 95% CI = 2.387-47.958; p = 0.002) in the PD population in this study.
|
28941828 |
2017 |
rs34778348
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
A sequence variant (G2385R) harboured within the C-terminal WD40 domain increases the risk for PD.
|
28710481 |
2017 |
rs34778348
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
In conclusion, the LRRK2 G2385R</span> genotype may not be associated with cognitive dysfunction in PD.
|
27839916 |
2017 |
rs34778348
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The objective of this study was to compare LRRK2-associated PD due to G2019S and G2385R mutations and to compare each to idiopathic PD.
|
27091104 |
2016 |
rs34778348
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
LRRK2 p.Gly2385Arg can explain most if not all of the PD association at rs1994090 in East Asians, but other nonsynonymous variants are independent.
|
26687033 |
2016 |
rs34778348
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
One hundred and eighty-six participants were enrolled, comprising 43 PD patients without (iPD) and 25 with (LRRK2-PD) the LRRK2 G2385R variant, and 118 healthy controls.
|
27699718 |
2016 |
rs34778348
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The objectives of this study were to identify PD subtypes using cluster analysis (CA) and to determine the association between the subtypes and the polymorphisms in LRRK2 (G2385R and R1628P) and GBA (L444P) genes.
|
25732803 |
2015 |
rs34778348
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
We found that Rep1, rs356165, and rs11931074 in SNCA gene; G2385R in LRRK2 gene; rs4698412 in BST1 gene; rs1564282 in PARK17; and L444P in GBA gene were associated with PD with adjustment of sex and age (p < 0.05) in the analysis of 16 variants.
|
25623333 |
2015 |
rs34778348
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
However, the coexistence of MAPT IVS1+124C>G significantly enhanced the LRRK2 G2385R-conferred risk for PD (Odds ratio, 2.30; 95% confidence intervals, 1.14-4.54; p = 0.012).
|
24559644 |
2014 |
rs34778348
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Although the changes Gly2019Ser and Gly2385Arg of LRRK2 are associated with PD in different populations; they may be a rare cause of PD in our population.
|
24729340 |
2014 |
rs34778348
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
In this study, we have investigated motor and non-motor aspects in 1638 Chinese PD patients who carried LRRK2 G2385R or R1628P (LRRK2-PD, n = 223), GBA L444P variant (GBA-PD, n = 49), or none of the variants (idiopathic PD [IPD], n = 1366).
|
24095219 |
2014 |
rs34778348
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The G2385R and R1628P variants were associated with a 2.2-fold (P = 0.019) and 1.2-fold (P = 0.054) increased risk of PD, respectively.
|
25243190 |
2014 |
rs34778348
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Our results suggest that the LRRK2 G2385R variants contribute to the susceptibility of PD especially in Chinese PD.
|
25027012 |
2014 |
rs34778348
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
In addition, we found that the proband and his mother carried the G2385R variant of the LRRK2, a strong risk factor for PD in Asians and the rare V1450I variant, although only the proband showed symptoms of parkinsonism.No mutations were found in parkin.
|
23124679 |
2013 |
rs34778348
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Our data support the concept that the LRRK2 G2385R mutation may be involved in the pathogenesis of PD in this family.
|
23268655 |
2013 |
rs34778348
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
These findings provide the necessary preliminary data to better understand the unique profile of PD G2385R variant carriers.
|
24046064 |
2013 |
rs34778348
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
In conclusion, this study provides the first evidence that G2385R polymorphism is a risk factor for sporadic PD in Han-Chinese population of south-eastern China.
|
23624603 |
2013 |
rs34778348
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The G2385R variant of leucine-rich repeat kinase 2 associated with Parkinson's disease is a partial loss-of-function mutation.
|
22612223 |
2012 |