Prion Diseases
|
|
0.700 |
GeneticVariation
|
GWASDB |
Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.
|
22210626 |
2012 |
Frontotemporal dementia
|
|
0.040 |
GeneticVariation
|
BEFREE |
The association replicated in 89 FTLD-TDP cases (rs1990622; P = 2 x 10(-4)).
|
20154673 |
2010 |
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 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 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 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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Wernicke Encephalopathy
|
|
0.010 |
GeneticVariation
|
BEFREE |
A distinct pattern of association was found between rs1990622 and gray matter volume of left-sided temporal brain regions important for language processing, including the superior temporal gyrus (β=-88.8 μL per risk allele, p=7.64×10(-5)), which contains Wernicke's area.
|
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 |
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 |
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 |
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 |
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 |
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 |