Alzheimer's Disease
|
|
0.030 |
GeneticVariation
|
BEFREE |
Alzheimer's Disease Neuroimaging Initiative cohort (ADNI; n=237) data, combining both multiplexed proteomics CSF and genotype data, were used to assess the association between CSF analytes and risk SNPs in four genes (SNPs): GRN (rs5848), TMEM106B (rs1990622), ABCC9 (rs704180), and KCNMB2 (rs9637454).
|
28189700 |
2017 |
Alzheimer's Disease
|
|
0.030 |
GeneticVariation
|
BEFREE |
We hypothesize that rs1990622 or another variant in linkage disequilibrium could act in a manner similar to APOE in Alzheimer disease, increasing risk for disease in the general population and modifying AAO in mutation carriers.
|
21220649 |
2011 |
Alzheimer's Disease
|
|
0.030 |
GeneticVariation
|
BEFREE |
We carried out an association study of transmembrane protein 106B gene (TMEM106B) rs1020004 A/G, rs6966915C/T, and rs1990622 A/G in a population of 656 patients with Alzheimer's disease (AD) and 619 controls, and tested whether the rs1990622 influences plasma progranulin levels.
|
25114081 |
2015 |
Bradykinesia
|
|
0.010 |
GeneticVariation
|
BEFREE |
The minor alleles "T" of rs1990622 and "C" of rs3173615 increased the risk for PD patients with initial symptom of rigidity/bradykinesia (OR: 1.21[1.10-1.34] and OR: 1.19[1.07-1.31], respectively).
|
28477711 |
2017 |
Brain atrophy
|
|
0.010 |
GeneticVariation
|
BEFREE |
Neither TMEM106B (rs1990622_T), KCNMB2 (rs9637454_A), nor any of the non-risk alleles were associated with brain atrophy.
|
27003218 |
2016 |
Cerebral atrophy
|
|
0.010 |
GeneticVariation
|
BEFREE |
Neither TMEM106B (rs1990622_T), KCNMB2 (rs9637454_A), nor any of the non-risk alleles were associated with brain atrophy.
|
27003218 |
2016 |
Frontotemporal dementia
|
|
0.040 |
GeneticVariation
|
BEFREE |
The association replicated in 89 FTLD-TDP cases (rs1990622; P = 2 x 10(-4)).
|
20154673 |
2010 |
Frontotemporal dementia
|
|
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 |
Frontotemporal dementia
|
|
0.040 |
GeneticVariation
|
BEFREE |
Association of TMEM106B rs1990622 marker and frontotemporal dementia: evidence for a recessive effect and meta-analysis.
|
25096617 |
2015 |
Frontotemporal dementia
|
|
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 |
Frontotemporal Lobar Degeneration
|
|
0.040 |
GeneticVariation
|
BEFREE |
Recent large genome-wide association studies have found variants in TMEM106B (top SNP rs1990622) as a strong risk factor for frontotemporal lobar degeneration.
|
24166182 |
2014 |
Frontotemporal Lobar Degeneration
|
|
0.040 |
GeneticVariation
|
BEFREE |
Transmembrane Protein 106B SNP rs1990622 was recently shown to modify the risk of frontotemporal lobar degeneration with TDP-43 inclusions (FTD-TDP).
|
25096617 |
2015 |
Frontotemporal Lobar Degeneration
|
|
0.040 |
GeneticVariation
|
BEFREE |
We further identified a significant association of TMEM106B SNPs with plasma GRN levels in controls (top SNP rs1990622, corrected p = 0.002) and in peripheral blood samples a highly significant correlation was observed between TMEM106B and GRN mRNA expression in patients with FTLD (r = -0.63, p = 7.7 × 10(-5)) and controls (r = -0.49, p = 2.2 × 10(-10)).
|
21178100 |
2011 |
Frontotemporal Lobar Degeneration
|
|
0.040 |
GeneticVariation
|
BEFREE |
We investigated the rs1990622 polymorphism in relation to regional brain volumes to identify potential structures through which TMEM106B confers risk for frontotemporal lobar degeneration.
|
24731779 |
2014 |
GRN-related frontotemporal dementia
|
|
0.030 |
GeneticVariation
|
BEFREE |
Recent large genome-wide association studies have found variants in TMEM106B (top SNP rs1990622) as a strong risk factor for frontotemporal lobar degeneration.
|
24166182 |
2014 |
GRN-related frontotemporal dementia
|
|
0.030 |
GeneticVariation
|
BEFREE |
Transmembrane Protein 106B SNP rs1990622 was recently shown to modify the risk of frontotemporal lobar degeneration with TDP-43 inclusions (FTD-TDP).
|
25096617 |
2015 |
GRN-related frontotemporal dementia
|
|
0.030 |
GeneticVariation
|
BEFREE |
We investigated the rs1990622 polymorphism in relation to regional brain volumes to identify potential structures through which TMEM106B confers risk for frontotemporal lobar degeneration.
|
24731779 |
2014 |
Hippocampal sclerosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
For SNPs previously linked to hippocampal sclerosis, meta-analyses of Stage I results show OR = 1.16 for rs5848 (GRN) and OR = 1.22 rs1990622 (TMEM106B), with the risk alleles as previously described.
|
24770881 |
2014 |
Motor Neuron Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
We assessed the genotype of 325 C9ORF72 expansion carriers (cohort 1), 586 FTD patients lacking C9ORF72 expansions [with or without motor neuron disease (MND); cohort 2], and a total of 1,302 controls for TMEM106B variants (rs3173615 and rs1990622) using MassArray iPLEX and Taqman genotyping assays.
|
24385136 |
2014 |
Muscle Rigidity
|
|
0.010 |
GeneticVariation
|
BEFREE |
In this Chinese patient population, "GG" of rs363371 in VMAT2 may reduce the risk for SALS, while minor alleles of rs1990622 and rs3173615 in TMEM106B may be associated with PD patients with initial symptom of rigidity/bradykinesia.
|
28477711 |
2017 |
Neurodegenerative Disorders
|
|
0.010 |
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 |
Parkinson Disease
|
|
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 |
Pick Disease of the Brain
|
|
0.010 |
GeneticVariation
|
BEFREE |
Association of TMEM106B rs1990622 marker and frontotemporal dementia: evidence for a recessive effect and meta-analysis.
|
25096617 |
2015 |
Prion Diseases
|
|
0.700 |
GeneticVariation
|
GWASDB |
Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.
|
22210626 |
2012 |
Tremor
|
|
0.010 |
GeneticVariation
|
BEFREE |
The frequencies of minor alleles for rs1990622 and rs3173615 in TMEM106B were significantly different between PD patients with initial symptoms of tremor and rigidity/bradykinesia (p=0.001), and between patients with initial symptom of rigidity/bradykinesia and HCs (p<0.001).
|
28477711 |
2017 |