|
rs1041833271
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Neuropathologic and molecular studies in brains of carriers of the PSEN1 p.A396T mutation or other PSEN1 or PSEN2 mutations associated with the coexistence of DLBD and AD are needed to clarify whether tau and α-synuclein proteinopathies occur independently or whether a relationship exists between α-synuclein and tau that might explain the mechanisms of coaggregation.
|
31165862 |
2019 |
|
rs1446915570
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Neuropathologic and molecular studies in brains of carriers of the PSEN1 p.A396T mutation or other PSEN1 or PSEN2 mutations associated with the coexistence of DLBD and AD are needed to clarify whether tau and α-synuclein proteinopathies occur independently or whether a relationship exists between α-synuclein and tau that might explain the mechanisms of coaggregation.
|
31165862 |
2019 |
|
rs377591051
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We studied 7 E46K-SNCA carriers (3 dementia with Lewy bodies, 2 pure autonomic failure, 1 PD and 1 asymptomatic), 2 PARK2 carriers and 2 healthy controls to quantify intraepidermal nerve fiber density and p-synuclein deposition with cervical skin punch biopsies (immunohistochemistry against anti PGP9.5/UCHL-1, TH and p-synuclein) and sudomotor function with electrochemical skin conductance (ESC) (SudoScan).
|
31178336 |
2019 |
|
rs421016
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The L444P mutation in the GBA1 gene which encodes β-glucocerebrosidase-1, is a major risk factor for developing Parkinson's disease (PD) and dementia with Lewy bodies (DLB).
|
31539859 |
2019 |
|
rs77369218
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Age-related neurochemical and behavioural changes in D409V/WT GBA1 mouse: Relevance to lewy body dementia.
|
31299418 |
2019 |
|
rs616338
|
|
|
0.010 |
GeneticVariation |
BEFREE |
None of the other cohorts showed significant associations that were concordant with those for AD, although the DLB cohort had suggestive findings (Fisher's test: ABI3_rs616338-T OR = 1.79, p = 0.097; PLCG2_rs72824905-G OR = 0.32, p = 0.124).
|
30326945 |
2018 |
|
rs1330229174
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An αS '3K' mutant (E35K + E46K + E61K) that amplifies the PD/DLB-causing E46K mutation induced αS-rich vesicle clusters resembling the vesicle-rich areas of Lewy bodies, supporting pathogenic relevance.
|
28911198 |
2017 |
|
rs777296100
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, we found that the short structural variant rs777296100-polyT was moderately associated with DLB but not with PD.
|
28431219 |
2017 |
|
rs33939927
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One clinical DLB patient was a p.G2019S carrier, while in the pathological high likelihood DLB series there was one carrier of the p.R1441C mutation.
|
27521182 |
2016 |
|
rs7133914
|
|
|
0.010 |
GeneticVariation |
BEFREE |
LRRK2 does not appear to play a major role in DLB, however further study of p.G2019S and the p.N551K-R1398H-K1423K haplotype is warranted to better understand their involvement in determining DLB risk.
|
27521182 |
2016 |
|
rs7308720
|
|
|
0.010 |
GeneticVariation |
BEFREE |
LRRK2 does not appear to play a major role in DLB, however further study of p.G2019S and the p.N551K-R1398H-K1423K haplotype is warranted to better understand their involvement in determining DLB risk.
|
27521182 |
2016 |
|
rs1289324472
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have previously shown that the p.N370S variant in GBA is associated with DLB, which, together with the findings at the SCARB2 locus, suggests a role for lysosomal dysfunction in this disease.
|
24973356 |
2014 |
|
rs63751273
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The present study examined the similarities of tau APFs with other tau amyloid species and showed for the first time the presence of tau APFs in brain tissue from patients with progressive supranuclear palsy (PSP) and dementia with Lewy bodies (DLB), as well as in the P301L mouse model, which overexpresses mutated tau.
|
24887264 |
2014 |
|
rs2306604
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These data show that the TFAM SNP rs2306604 A allele may be a risk factor for PDD, particularly in males, but not for DLB.
|
24184878 |
2013 |
|
rs4680
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We sought to determine whether the COMT val158met polymorphism (rs4680) is associated with delusions and hallucinations in people with dementia with Lewy bodies (DLB) and Parkinson's disease dementia (PDD).
|
23069674 |
2012 |
|
rs112176450
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Subsequent sequence and genotype analysis identified EIF4G1 c.1505C>T (p.Ala502Val), c.2056G>T (p.Gly686Cys), c.3490A>C (p.Ser1164Arg), c.3589C>T (p.Arg1197Trp) and c.3614G>A (p.Arg1205His) substitutions in affected subjects with familial parkinsonism and idiopathic Lewy body disease but not in control subjects.
|
21907011 |
2011 |
|
rs113388242
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Subsequent sequence and genotype analysis identified EIF4G1 c.1505C>T (p.Ala502Val), c.2056G>T (p.Gly686Cys), c.3490A>C (p.Ser1164Arg), c.3589C>T (p.Arg1197Trp) and c.3614G>A (p.Arg1205His) substitutions in affected subjects with familial parkinsonism and idiopathic Lewy body disease but not in control subjects.
|
21907011 |
2011 |
|
rs774457232
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Subsequent sequence and genotype analysis identified EIF4G1 c.1505C>T (p.Ala502Val), c.2056G>T (p.Gly686Cys), c.3490A>C (p.Ser1164Arg), c.3589C>T (p.Arg1197Trp) and c.3614G>A (p.Arg1205His) substitutions in affected subjects with familial parkinsonism and idiopathic Lewy body disease but not in control subjects.
|
21907011 |
2011 |
|
rs6265
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To date, there have been several conflicting reports on the correlation between AD or PD and Val66Met or C270T polymorphism in the BDNF promoter region, although no data on this relationship have been published with respect to dementia with Lewy bodies (DLB).
|
16899999 |
2006 |
|
rs759834365
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To date, there have been several conflicting reports on the correlation between AD or PD and Val66Met or C270T polymorphism in the BDNF promoter region, although no data on this relationship have been published with respect to dementia with Lewy bodies (DLB).
|
16899999 |
2006 |
|
rs143624519
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Pathogenic mutations in the tau gene (microtubule associated protein tau, MAPT) are linked to the onset of tauopathy, but the A152T variant is unique in acting as a risk factor for a range of disorders including Alzheimer's disease (AD), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and dementia with Lewy bodies (DLB).
|
30674342 |
2019 |
|
rs72824905
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We replicated the association of rs72824905-G with reduced AD risk and we found an association with reduced risk of dementia with Lewy bodies (DLB) and frontotemporal dementia (FTD).
|
31131421 |
2019 |
|
rs72824905
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We validated the associations previously reported with ABI3_rs616338-T and PLCG2_rs72824905-G in a Caucasian AD case-control cohort, and observed a similar direction of effect in DLB.
|
30326945 |
2018 |
|
rs143624519
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Overall, our findings suggest that MAPT p.A152T is a rare low penetrance variant likely associated with DLB that may be influenced by coexisting LBD and AD pathology.
|
26333800 |
2015 |
|
rs1342971994
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Furthermore, two missense mutations (P123H and V70M) of beta-syn were recently identified in DLB.
|
19711118 |
2009 |