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rs749242026
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A 3-year-old girl with relapsed high-risk NBL had a heterozygous <i>ALK</i> F1245L mutation at diagnosis, which became homozygous due to uniparental disomy (UPD) of the entire chromosome 2, confirmed by single nucleotide polymorphism array and variant allele frequency of this mutation.
|
30867766 |
2019 |
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rs758576072
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Exogenously applied oligomers of the FTD tau-K18 variants (V337M and N279K) were significantly more efficiently taken up by SH-SY5Y neuroblastoma cells than WT tau-K18, suggesting mutation-induced changes in cellular internalization.
|
31338022 |
2019 |
|
rs7973450
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Overall, our results suggested that rs7973450 A>G was associated with increased neuroblastoma risk.
|
31564912 |
2019 |
|
rs869312966
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast, the R1620L mutation associated with intellectual disability and autism-but not epilepsy-reduced Na+ current density in neuroblastoma cells and expectedly decreased neuronal firing.
|
30615093 |
2019 |
|
rs878854066
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Overall, we confirmed that miR-34b/c rs4938723 and TP53 Arg72Pro conferred decreased neuroblastoma risk and two polymorphisms exerted stronger protective effects against neuroblastoma than either one alone.
|
31325764 |
2019 |
|
rs879255652
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The E1483K mutation causing mild epilepsy showed no significant biophysical changes, whereas the R1872W mutation causing severe epilepsy induced clear gain-of-function biophysical changes in neuroblastoma cells.
|
30615093 |
2019 |
|
rs1048108
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Functional single-nucleotide polymorphism (SNP) prioritization identified two causative variants that independently contributed to neuroblastoma risk, and each replicated robustly in multiple independent cohorts comprising 445 high-risk cases and 3,170 controls (rs17489363: combined p = 1.07 × 10<sup>-31</sup> , OR:1.79, 95% CI:1.62-1.98 and rs1048108: combined p = 7.27 × 10<sup>-14</sup> , OR:0.65, 95% CI:0.58-0.73).
|
30132831 |
2018 |
|
rs1052133
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Stratified analysis revealed that rs1052133</span> GC/CC carriers were less likely to develop neuroblastoma in subgroups of age >18 months, males, tumor that develops from retroperitoneal, mediastinum and clinical stage I+II+4s.
|
30519358 |
2018 |
|
rs11134527
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Overall, the miR-34b/c rs4938723 T > C and miR-218 rs11134527 A > G polymorphisms displayed a protective role from neuroblastoma.These findings need further validation.
|
29858046 |
2018 |
|
rs11615
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results showed that ERCC1 rs2298881 and rs11615 predisposed to enhanced neuroblastoma risk [CA vs. AA: adjusted odds ratio (OR)=1.94, 95% confidence interval (CI)=1.30-2.89, P=0.0012; CC vs. AA: adjusted OR=2.18, 95% CI=1.45-3.26, P=0.0002 for rs2298881, and AG vs. GG: adjusted OR=1.31, 95% CI=1.02-1.69, P=0.038 for rs11615].
|
29544698 |
2018 |
|
rs121908513
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Overexpression of I344K-SPAST resulted in microtubule accumulation following inhibited neurite growth in neuroblastoma, neural progenitor cells and mouse primary cortical neurons.
|
30006150 |
2018 |
|
rs12826786
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The authors found that the rs12826786 C>T (P =.013), rs874945 C>T (P =.020), and rs1899663 C>A (P =.029) polymorphisms were significantly associated with increased neuroblastoma risk.
|
29603181 |
2018 |
|
rs13034994
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results showed that only rs57961569 G>A was associated with neuroblastoma risk (GA vs GG: adjusted odds ratio =0.76, 95% confidence interval =0.60-0.98, <i>P</i>=0.033), while the other 3 SNPs were not (rs9653226 T>C, rs13034994 A>G, and rs60226897 G>A).
|
29997440 |
2018 |
|
rs13181
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we endeavored to determine the relevance of <i>XPD</i> gene polymorphisms and neuroblastoma susceptibility in Chinese children genotyping three <i>XPD</i> polymorphisms (rs3810366, rs13181 and rs238406) in 505 cases and 1070 controls and assessing their contributions to neuroblastoma risk.
|
30089098 |
2018 |
|
rs145976111
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The effect of rs147480547 and rs145976111 was studied in human neuroblastoma SH-SY5Y cells.
|
29526452 |
2018 |
|
rs147480547
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The effect of rs147480547 and rs145976111 was studied in human neuroblastoma SH-SY5Y cells.
|
29526452 |
2018 |
|
rs1799782
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Herein, we conducted a case-control study with 393 neuroblastoma patients and 812 controls to explore the association of <i>XRCC1</i> gene polymorphisms (rs1799782 G>A, rs25487 C>T, rs25489 C>T and rs915927 T>C) with neuroblastoma risk.
|
30362960 |
2018 |
|
rs1800975
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this hospital-based case-control study with 393 cases and 812 controls, we genotyped two polymorphisms (rs1800975 T>C, and rs3176752 G>T) in <i>XPA</i> gene to access their contributions to neuroblastoma risk by TaqMan methods.
|
30087717 |
2018 |
|
rs1899663
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The authors found that the rs12826786 C>T (P =.013), rs874945 C>T (P =.020), and rs1899663 C>A (P =.029) polymorphisms were significantly associated with increased neuroblastoma risk.
|
29603181 |
2018 |
|
rs2147578
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The Lnc-LAMC2-1:1 rs2147578 C > G polymorphism may contribute to increased neuroblastoma susceptibility in children of Henan province.
|
30285664 |
2018 |
|
rs2273535
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To investigate the association between three <i>AURKA</i> polymorphisms (rs1047972 C>T, rs2273535 T>A, and rs8173 G>C) and neuroblastoma susceptibility in Chinese populations, we performed this two-center case-control study including 393 neuroblastoma cases and 812 controls.
|
29678897 |
2018 |
|
rs2276466
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, XPF rs2276466 was also associated with increased neuroblastoma risk (GG vs. CC: adjusted OR=1.66, 95% CI=1.02-2.71, P=0.043).
|
29544698 |
2018 |
|
rs2298881
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results showed that ERCC1 rs2298881 and rs11615 predisposed to enhanced neuroblastoma risk [CA vs. AA: adjusted odds ratio (OR)=1.94, 95% confidence interval (CI)=1.30-2.89, P=0.0012; CC vs. AA: adjusted OR=2.18, 95% CI=1.45-3.26, P=0.0002 for rs2298881, and AG vs. GG: adjusted OR=1.31, 95% CI=1.02-1.69, P=0.038 for rs11615].
|
29544698 |
2018 |
|
rs238406
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we endeavored to determine the relevance of <i>XPD</i> gene polymorphisms and neuroblastoma susceptibility in Chinese children genotyping three <i>XPD</i> polymorphisms (rs3810366, rs13181 and rs238406) in 505 cases and 1070 controls and assessing their contributions to neuroblastoma risk.
|
30089098 |
2018 |
|
rs25489
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Stratified analysis revealed that the <i>XRCC1</i> rs25489 CT/TT was strongly associated with reduced risk of neuroblastoma in the children ≤ 18 months of age and subgroup with clinical stage I+II+4s diseases, compared with CC genotypes.
|
30362960 |
2018 |