|
rs2230288
|
|
|
0.790 |
GeneticVariation |
BEFREE |
The GBA-E326K is more likely to affect PD risk when accompanied by another mutation, and an additive effect on risk and earlier AAO was proposed for carriers of LRRK2/mild-GBA double mutations.
|
31662221 |
2019 |
|
rs2230288
|
|
|
0.790 |
GeneticVariation |
BEFREE |
Polygenic risk score using variants rs2230288 and rs2291312, however, was associated to PD with odds ratio of 2.7 (95% confidence interval 1.4-5.2; p < 2.56e-03).
|
31827228 |
2019 |
|
rs2230288
|
|
|
0.790 |
GeneticVariation |
BEFREE |
In this study, we found that E326K of GBA is associated with the risk of PD in total populations, Asians, and Caucasians, respectively.
|
29808112 |
2018 |
|
rs2230288
|
|
|
0.790 |
GeneticVariation |
BEFREE |
The results suggest that E326K may fully account for the primary association signal observed at chromosome 1q22 in previous GWAS of PD.
|
28830825 |
2017 |
|
rs2230288
|
|
|
0.790 |
GeneticVariation |
BEFREE |
The entire GBA coding region was screened for mutations and E326K in 740 patients with PD enrolled at 7 sites from the PD Cognitive Genetics Consortium.
|
27571329 |
2016 |
|
rs2230288
|
|
|
0.790 |
GeneticVariation |
BEFREE |
The frequency (6.67%) of E326K and T369M in PD patients is comparable to 7.27% in control individuals (X(2) = 0.042, p = 0.8376), further supporting that these two variants have no pathological effects on PD.
|
26000814 |
2016 |
|
rs2230288
|
|
|
0.790 |
GeneticVariation |
GWASCAT |
Detection and interpretation of shared genetic influences on 42 human traits.
|
27182965 |
2016 |
|
rs2230288
|
|
|
0.790 |
GeneticVariation |
BEFREE |
Additionally, gene-based and single-variant analyses demostrated that GBA gene variants (p.L483P, p.R83C, p.N409S, p.H294Q and p.E365K) increase PD risk.
|
27094865 |
2016 |
|
rs2230288
|
|
|
0.790 |
GeneticVariation |
BEFREE |
Our results confirm recent reports that the mutation, E326K, predisposes to PD and suggest that, in addition to reduced GBA1 activity, other molecular mechanisms may contribute to the development of the disease.
|
23225227 |
2013 |
|
rs2230288
|
|
|
0.790 |
GeneticVariation |
BEFREE |
In this communication we summarize published and new data concerning biochemical characterization of the E326K amino acid change (1093G>A in the GBA1 cDNA) in tissue culture and its association with Parkinson disease, suggesting it is a disease causing mutation and not merely a polymorphism in the GBA gene.
|
21831682 |
2012 |
|
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 |
|
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 |
|
rs76763715
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We detected modest PD risk variant p.N409S (rs76763715) in one case, p.E365K (rs2230288) in 12 cases, and p.T408 M (rs75548401) in seven cases, one of whom also had p.E365K.
|
31809948 |
2020 |
|
rs1289324472
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our results suggest an association between the GBA c.1226A>G; p.N370S and c.1448T>C; p.L444P mutations and the development of PD in the population of patients from the Northern Brazil.
|
30810589 |
2019 |
|
rs1289324472
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Using high-resolution, single-cell transcriptomic analyses of iPSC-derived dopamine neurons carrying the GBA-N370S PD risk variant, we identified a progressive axis of gene expression variation leading to endoplasmic reticulum stress.
|
30503143 |
2019 |
|
rs421016
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Next, targeted sequencing panel covering 51 genes causative for PD was applied for the proband; it revealed a heterozygous missense substitution R964C in POLG and a heterozygous missense substitution L444P in GBA.
|
30941926 |
2019 |
|
rs421016
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our results suggest an association between the GBA c.1226A>G; p.N370S and c.1448T>C; p.L444P mutations and the development of PD in the population of patients from the Northern Brazil.
|
30810589 |
2019 |
|
rs421016
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Generation of an integration-free iPSC line, ICCSICi005-A, derived from a Parkinson's disease patient carrying the L444P mutation in the GBA1 gene.
|
31539859 |
2019 |
|
rs76763715
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our results suggest an association between the GBA c.1226A>G; p.N370S and c.1448T>C; p.L444P mutations and the development of PD in the population of patients from the Northern Brazil.
|
30810589 |
2019 |
|
rs76763715
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Using high-resolution, single-cell transcriptomic analyses of iPSC-derived dopamine neurons carrying the GBA-N370S PD risk variant, we identified a progressive axis of gene expression variation leading to endoplasmic reticulum stress.
|
30503143 |
2019 |
|
rs1289324472
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The frequency of GBA mutations (L444P, N370S) in PD patients was higher compared to controls (odds ratio [OR] = 6.9, 95% confidence interval [CI], 0.9-53.13, p = 0.031), particularly in patients with early-onset compared to late-onset PD (OR = 3.90 [95% CI, 1.2-13.2], p = 0.009).
|
30146349 |
2018 |
|
rs1289324472
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Pathogenic mutations in the glucocerebrosidase (GBA) gene are associated with Parkinson's disease (PD), of which L444P and N370S are the most frequently observed in patients with PD.
|
29530815 |
2018 |
|
rs1289324472
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To overcome these biases, we traced 13 Gaucher disease (GD) patients who were compound heterozygotes for one mild (N370S) and one severe GBA mutation and who reported a parent with PD.
|
27864021 |
2018 |
|
rs1289324472
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Moreover, α-syn tetramers and related multimers are decreased in N370S <i>GBA1</i> Parkinson's disease (PD) induced pluripotent stem cell (iPSC)-derived human dopaminergic (hDA) neurons and murine neurons carrying the heterozygous L444P <i>GBA1</i> mutation.
|
29311330 |
2018 |
|
rs421016
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The frequency of GBA mutations (L444P, N370S) in PD patients was higher compared to controls (odds ratio [OR] = 6.9, 95% confidence interval [CI], 0.9-53.13, p = 0.031), particularly in patients with early-onset compared to late-onset PD (OR = 3.90 [95% CI, 1.2-13.2], p = 0.009).
|
30146349 |
2018 |