|
rs10101195
|
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.
|
29724592 |
2018 |
|
rs13072484
|
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.
|
29724592 |
2018 |
|
rs6108746
|
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.
|
29724592 |
2018 |
|
rs1990622
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The association replicated in 89 FTLD-TDP cases (rs1990622; P = 2 x 10(-4)).
|
20154673 |
2010 |
|
rs1990622
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Intriguingly, the genotype that confers increased risk for developing FTLD-TDP (major, or T, allele of rs1990622) is associated with later age at onset and death in C9orf72 expansion carriers, providing an example of sign epistasis in human neurodegenerative disease.
|
24442578 |
2014 |
|
rs1990622
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Association of TMEM106B rs1990622 marker and frontotemporal dementia: evidence for a recessive effect and meta-analysis.
|
25096617 |
2015 |
|
rs1990622
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Recent studies found that two polymorphisms (rs363371 and rs363324) in VMAT2 might be a risk factor for Parkinson's disease (PD) in Caucasians, while the two other variants (rs1990622 and rs3173615) in TMEM106B increased the risk for frontotemporal dementia (FTD).
|
28477711 |
2017 |
|
rs13302855
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among 124 876 cases and controls, genome-wide conjunction analyses of ALS, FTD, PD, AD, CBD, and PSP revealed significant genetic overlap between ALS and FTD at known ALS loci: rs13302855 and rs3849942 (nearest gene, C9orf72; P = .03 for rs13302855 and P = .005 for rs3849942) and rs4239633 (nearest gene, UNC13A; P = .03).
|
29630712 |
2018 |
|
rs1595014
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, the finding in the stage 1 sample that AD risk is significantly influenced by the interaction of APOE with rs1595014 in TMEM106B (P=1·6 × 10(-7)) is noteworthy, because TMEM106B variants have previously been associated with risk of frontotemporal dementia.
|
25778476 |
2016 |
|
rs363324
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recent studies found that two polymorphisms (rs363371 and rs363324) in VMAT2 might be a risk factor for Parkinson's disease (PD) in Caucasians, while the two other variants (rs1990622 and rs3173615) in TMEM106B increased the risk for frontotemporal dementia (FTD).
|
28477711 |
2017 |
|
rs363371
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recent studies found that two polymorphisms (rs363371 and rs363324) in VMAT2 might be a risk factor for Parkinson's disease (PD) in Caucasians, while the two other variants (rs1990622 and rs3173615) in TMEM106B increased the risk for frontotemporal dementia (FTD).
|
28477711 |
2017 |
|
rs1205185774
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Neuropathological and biochemical findings are reported in a patient who had suffered from frontotemporal dementia associated with a P310L mutation in the tau gene and included in the H1 haplotype.
|
14757934 |
2003 |
|
rs449647
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Significant associations with FTD were observed for genotypes rs449647 A/T (odds ratio [OR], 2.1; 95% confidence interval [CI], 1.0-4.5), rs769446 T/C (OR, 4.4; 95% CI, 1.9-10.2), and APOE ε3/ε4 (OR, 4.1; 95% CI, 1.6-10.9).
|
21555637 |
2011 |
|
rs769446
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Significant associations with FTD were observed for genotypes rs449647 A/T (odds ratio [OR], 2.1; 95% confidence interval [CI], 1.0-4.5), rs769446 T/C (OR, 4.4; 95% CI, 1.9-10.2), and APOE ε3/ε4 (OR, 4.1; 95% CI, 1.6-10.9).
|
21555637 |
2011 |
|
rs1223904774
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The PS-1 M146V mutation was found in the 50-year-old subject (the proband) with family history of early-onset FTD.
|
23489366 |
2013 |
|
rs1386984902
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The soluble fractalkine overexpression with adenoviral vectors reduced tau pathology and prevented neurodegeneration in a Tg4510 model of taupathy Finally, animals with Aβ (1-42) infused by lentivirus (cortex) or mice with the P301L mutation (frontotemporal dementia) had caspase-3 activation (8-fold) and higher proinflammatory TNF alpha levels and p-Tau deposits at 4 weeks postinfusion.
|
26567742 |
2016 |
|
rs63750066
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a case of dementia clinically compatible with frontotemporal dementia in an APP Ala713Thr mutation carrier in which both [18F]Florbetapir PET uptake and Aβ1-42 cerebrospinal fluid levels were normal.
|
28304299 |
2017 |
|
rs781049584
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we have tested ten major inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia-linked mutants for ATPase activity and found that all have increased activity over the wild type, with one mutant, p97(A232E), having three times higher activity.
|
22270372 |
2012 |
|
rs7240419
|
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.
|
29724592 |
2018 |
|
rs1980493
|
|
T |
0.700 |
GeneticVariation |
GWASDB |
Frontotemporal dementia and its subtypes: a genome-wide association study.
|
24943344 |
2014 |
|
rs1181028283
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In CHCHD10, we identified a novel nonsense mutation (p.Gln108*) in a patient with atypical clinical FTD and pathology-confirmed Parkinson's disease (1/459, 0.22%) leading to loss of transcript.
|
28069311 |
2017 |
|
rs3849942
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Among 124 876 cases and controls, genome-wide conjunction analyses of ALS, FTD, PD, AD, CBD, and PSP revealed significant genetic overlap between ALS and FTD at known ALS loci: rs13302855 and rs3849942 (nearest gene, C9orf72; P = .03 for rs13302855 and P = .005 for rs3849942) and rs4239633 (nearest gene, UNC13A; P = .03).
|
29630712 |
2018 |
|
rs3849942
|
|
|
0.020 |
GeneticVariation |
BEFREE |
All expansion-positive patients were genotyped for rs3849942, a surrogate marker for the chromosome 9p21 risk haplotype previously associated with FTD and ALS.
|
22875086 |
2012 |
|
rs2814707
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genotype analysis revealed that the proband shared the previously reported 20-single nucleotide polymorphism risk haplotype, whereas the patient with sporadic FTD carried all single nucleotide polymorphisms except rs2814707-A.
|
24269022 |
2014 |
|
rs778264897
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In this study, we examined the ALS/FTD-causing p.Ser621Gly (p.S621G) mutation in cyclin F and its effect upon downstream Lys48-specific ubiquitylation in transfected Neuro-2A and SH-SY5Y cells.
|
28852778 |
2018 |