Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs110419
rs110419
0.050 GeneticVariation BEFREE <b>Results:</b> Significant associations with neuroblastoma risk were found for four (rs110419, rs4758051, rs10840002, and rs2168101) out of the five polymorphisms. 30406033

2018

dbSNP: rs110419
rs110419
0.050 GeneticVariation BEFREE We also confirmed that rs6939340 A>G (G versus A: OR=1.30, 95% CI=1.13-1.50) and rs110419 G>A (A versus G: OR=1.37, 95% CI=1.19-1.58) were associated with increased neur</span>oblastoma risk for all subjects. 29024823

2017

dbSNP: rs110419
rs110419
0.050 GeneticVariation BEFREE A major haplotype, ATC, containing rs204926, rs110420, and rs110419, conferred a significant increase in risk for NB (OR = 1.82, 95% CI: 1.41-2.36, adjusted P < 0.001). 26030754

2015

dbSNP: rs63750306
rs63750306
0.050 GeneticVariation BEFREE Two (P117L; M146L) familial Alzheimer's disease (FAD)-causing presenilin-1 (PS1) mutations have been tested fortheir effect in stably transfected mouse neuroblastoma (N2a) cell lines. 10400232

1999

dbSNP: rs63750306
rs63750306
0.050 GeneticVariation BEFREE Here, we report that the expression of FAD-linked PS1 M146V mutant affects store-operated calcium channel activity (Isoc) in human neuroblastoma SK-N-SH cells. 23624206

2013

dbSNP: rs63750306
rs63750306
0.050 GeneticVariation BEFREE The influence of PS1 mutations on the generation of endogenous intracellular amyloid beta-protein (A beta) species was assessed using a highly sensitive immunoblotting technique with inducible mouse neuroblastoma (Neuro 2a) cell lines expressing the human wild-type (wt) or mutated PS1 (M146L or delta exon 10). 9751187

1998

dbSNP: rs63750306
rs63750306
0.050 GeneticVariation BEFREE To elucidate the role of presenilin-1 in the Alzheimer's disease pathology, we tested two such mutations (P117L and M146L) for their effect in stably transfected mouse neuroblastoma cell lines. 11311782

2001

dbSNP: rs63750306
rs63750306
0.050 GeneticVariation BEFREE To investigate the pathogenic mechanism of PS1 mutations linked to FAD, we established inducible mouse neuroblastoma (Neuro 2a) cell lines expressing the human wild-type (wt) or mutated PS1(M146L or deltaexon 10) under the control of the Lac repressor. 10360683

1999

dbSNP: rs10840002
rs10840002
0.040 GeneticVariation BEFREE <b>Objective:</b> We conducted a three-center case-control study including 313 cases and 716 controls with the purpose to evaluate the association between five GWAS-identified <i>LMO1</i> variants (rs110419 A>G, rs4758051 G>A, rs10840002 A>G, rs204938 A>G, and rs2168101 G>T) and neuroblastoma susceptibility in eastern Chinese children. 30406033

2018

dbSNP: rs10840002
rs10840002
0.040 GeneticVariation BEFREE In addition, the rs4758051 variant appeared protective against NB in homozygous, dominant and allele genetic models, whereas the rs10840002 variant markedly decreased the risk of NB in the allele model. 31830377

2020

dbSNP: rs10840002
rs10840002
0.040 GeneticVariation BEFREE In a combination analysis using Southern and Northern Chinese populations, we found that those carrying the rs110419 G, rs4758051 A or rs10840002 G allele were at decreased neuroblastoma risk, and this finding was supported by a false-positive report probability analysis. 29029458

2017

dbSNP: rs10840002
rs10840002
0.040 GeneticVariation BEFREE Previous genome-wide association study (GWAS) indicated that several common genetic variations (rs110419 A > G, rs4758051 G > A, rs10840002 A > G and rs204938 A > G) in the LIM domain only 1 (LMO1) gene were associated with neuroblastoma susceptibility. 27009839

2016

dbSNP: rs121912431
rs121912431
0.040 GeneticVariation BEFREE Expression of mutant SOD1 (G37R) resulted in a time and dose-related death of differentiated neuroblastoma cells. 12067230

2002

dbSNP: rs121912431
rs121912431
0.040 GeneticVariation BEFREE Mouse neuroblastoma Neuro-2a cells were transfected with human wild-type or mutated (G37R, G93A) Cu,Zn-SOD. 15456693

2005

dbSNP: rs121912431
rs121912431
0.040 GeneticVariation BEFREE Previously, we reported that overexpression of the mitochondrial antioxidant manganese superoxide dismutase (MnSOD or SOD2) attenuates cytotoxicity induced by expression of the G37R-SOD1 mutant in a human neuroblastoma cell culture model of ALS. 17394531

2007

dbSNP: rs121912431
rs121912431
0.040 GeneticVariation BEFREE Here, we show that stable overexpression of mutant human SOD1 (G37R) - but not wild-type SOD1 (wt-SOD1) - in mouse neuroblastoma cells (N2a) results in morphological abnormalities of mitochondria accompanied by several dysfunctions. 21388680

2011

dbSNP: rs1386984902
rs1386984902
APP
0.040 GeneticVariation BEFREE The present study evaluates the impact of neurosteroids belonging to the sex hormone family (progesterone, estradiol, estrone, testosterone, 3α-androstanediol) on mitochondrial dysfunction in cellular models of AD: human neuroblastoma cells (SH-SY5Y) stably transfected with constructs encoding (1) the human amyloid precursor protein (APP) resulting in overexpression of APP and Aβ, (2) wild-type tau (wtTau), and (3) mutant tau (P301L), that induces abnormal tau hyperphosphorylation. 26198711

2016

dbSNP: rs1386984902
rs1386984902
APP
0.040 GeneticVariation BEFREE In the present study, we aimed to characterize the link between ER stress and bioenergetics defects under normal condition (human SH-SY5Y neuroblastoma cells: control cells) or under pathological AD condition [SH-SY5Y cells overexpressing either the human amyloid precursor protein (APP) or mutant tau (P301L)]. 30683981

2019

dbSNP: rs1386984902
rs1386984902
APP
0.040 GeneticVariation BEFREE The present study aimed to evaluate the impact of the new TSPO ligands on mitochondrial dysfunction in a cellular model of AD-related tauopathy (human neuroblastoma cells SH-SY5Y stably overexpressing the P301L-mutant Tau) presenting mitochondrial impairments, including a decreased ATP synthesis and mitochondrial membrane potential, as well as a decrease in pregnenolone synthesis compared to control cells. 31536662

2020

dbSNP: rs1386984902
rs1386984902
APP
0.040 GeneticVariation BEFREE To understand which processes are disrupted by Abeta42 in the presence of tau aggregates, we applied comparative proteomics to Abeta42-treated P301L tau-expressing neuroblastoma cells and the amygdala of P301L tau transgenic mice stereotaxically injected with Abeta42. 17111439

2006

dbSNP: rs204938
rs204938
0.040 GeneticVariation BEFREE In contrast, the rs204938 polymorphism showed a positive association with NB susceptibility in allele genetic models. 31830377

2020

dbSNP: rs204938
rs204938
0.040 GeneticVariation BEFREE In this work, we used Taqman methodology to genotype four <i>LMO1</i> polymorphisms (rs110419 A > G, rs4758051 G > A, rs10840002 A > G and rs204938 A > G) in 118 neuroblastoma cases and 281 controls from Northern China. 29029458

2017

dbSNP: rs204938
rs204938
0.040 GeneticVariation BEFREE Previous genome-wide association study (GWAS) indicated that several common genetic variations (rs110419 A > G, rs4758051 G > A, rs10840002 A > G and rs204938 A > G) in the LIM domain only 1 (LMO1) gene were associated with neuroblastoma susceptibility. 27009839

2016

dbSNP: rs204938
rs204938
0.040 GeneticVariation BEFREE <b>Objective:</b> We conducted a three-center case-control study including 313 cases and 716 controls with the purpose to evaluate the association between five GWAS-identified <i>LMO1</i> variants (rs110419 A>G, rs4758051 G>A, rs10840002 A>G, rs204938 A>G, and rs2168101 G>T) and neuroblastoma susceptibility in eastern Chinese children. 30406033

2018

dbSNP: rs4758051
rs4758051
0.040 GeneticVariation BEFREE In addition, the rs4758051 variant appeared protective against NB in homozygous, dominant and allele genetic models, whereas the rs10840002 variant markedly decreased the risk of NB in the allele model. 31830377

2020