rs1990622, None

N. diseases: 16
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Prion Diseases
CUI: C0162534
Disease: 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
CUI: C0338451
Disease: 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 dementia
CUI: C0338451
Disease: 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
CUI: C0751072
Disease: 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
CUI: C0751072
Disease: 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
CUI: C0338451
Disease: 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 Lobar Degeneration
CUI: C0751072
Disease: 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
Frontotemporal Lobar Degeneration
CUI: C0751072
Disease: 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
CUI: C0338451
Disease: Frontotemporal dementia
0.040 GeneticVariation BEFREE The association replicated in 89 FTLD-TDP cases (rs1990622; P = 2 x 10(-4)). 20154673 2010
Alzheimer's Disease
CUI: C0002395
Disease: 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
GRN-related frontotemporal dementia
CUI: C3811918
Disease: 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
CUI: C0002395
Disease: 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
CUI: C3811918
Disease: 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
CUI: C3811918
Disease: 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
Alzheimer's Disease
CUI: C0002395
Disease: 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
Bradykinesia
CUI: C0233565
Disease: 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
Tremor
CUI: C0040822
Disease: 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
Parkinson Disease
CUI: C0030567
Disease: 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
Muscle Rigidity
CUI: C0026837
Disease: 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
Cerebral atrophy
CUI: C0235946
Disease: 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
CUI: C4551584
Disease: 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
Pick Disease of the Brain
CUI: C0236642
Disease: 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
Neurodegenerative Disorders
CUI: C0524851
Disease: 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
CUI: C0043121
Disease: 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
CUI: C1504404
Disease: 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