|
Parkinson Disease
|
|
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 |
|
Parkinson Disease
|
|
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 |
|
Parkinson Disease
|
|
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 |
|
Parkinson Disease
|
|
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 |
|
Parkinson Disease
|
|
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 |
|
Parkinson Disease
|
|
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 |
|
Parkinson Disease
|
|
0.790 |
GeneticVariation
|
GWASCAT |
Detection and interpretation of shared genetic influences on 42 human traits.
|
27182965 |
2016 |
|
Parkinson Disease
|
|
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 |
|
Parkinson Disease
|
|
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 |
|
Parkinson Disease
|
|
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 |
|
Dementia
|
|
0.720 |
GeneticVariation
|
BEFREE |
Mutation carriers (n = 60; 4.4%) and E326K carriers (n = 65; 4.7%) had a higher prevalence of dementia (mutations, odds ratio = 5.1; P = 9.7 × 10(-6) ; E326K, odds ratio = 6.4; P = 5.7 × 10(-7) ) and lower performance on Letter-Number Sequencing (mutations, corrected P[Pc ] = 9.0 × 10(-4) ; E326K, Pc = 0.036), Trail Making B-A (mutations, Pc = 0.018; E326K, Pc = 0.018), and Benton Judgment of Line Orientation (mutations, Pc = 0.0045; E326K, Pc = 0.0013).
|
26296077 |
2016 |
|
Dementia
|
|
0.720 |
GeneticVariation
|
BEFREE |
A significantly higher proportion of E326K carriers (10 of 21 [47.6%]; P = .01) and GBA variant carriers (15 of 39 [38.5%]; P = .04) progressed to mild cognitive impairment or dementia.
|
27571329 |
2016 |
|
Dementia
|
|
0.720 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
Gaucher Disease, Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Two novel mutations in glucocerebrosidase, C23W and IVS7-1 G>A, identified in Type 1 Gaucher patients heterozygous for N370S.
|
24434810 |
2014 |
|
Gaucher Disease, Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Functional analysis of 11 novel GBA alleles.
|
24022302 |
2014 |
|
Gaucher Disease, Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1.
|
24577513 |
2014 |
|
Gaucher Disease, Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel pathogenic mutations in the glucocerebrosidase locus.
|
22658918 |
2012 |
|
Gaucher Disease, Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl.
|
21098288 |
2010 |
|
Gaucher Disease, Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
|
19888064 |
2009 |
|
Gaucher Disease, Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Carrier screening in individuals of Ashkenazi Jewish descent.
|
18197057 |
2008 |
|
Gaucher Disease, Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
|
16293621 |
2006 |
|
Gaucher Disease, Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Use of fluorescent substrates for characterization of Gaucher disease mutations.
|
15916907 |
2005 |
|
Gaucher Disease, Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.
|
15605411 |
2005 |
|
Gaucher Disease, Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype.
|
15292921 |
2004 |
|
Gaucher Disease, Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.
|
12204005 |
2002 |