|
rs10055201
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
A previous genome-wide association study (GWAS) identified four genetic polymorphisms (rs1027702 near <i>DUSP12</i>, rs10055201 in <i>IL31RA</i>, rs2619046 in <i>DDX4</i>, and rs11037575 in <i>HSD17B12</i> gene) that were associated with neuroblastoma susceptibility, especially for low-risk subjects.
|
28435286 |
2017 |
|
rs1024611
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Dual-luciferase reporter assays were conducted in neuroblastoma cells to assess the promoter transcriptional activity of the rs1024611 variants (T>C) and the GRCh38.p12chr17:34252593 G>C alleles in CCL2.
|
30761072 |
2019 |
|
rs1027702
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
A previous genome-wide association study (GWAS) identified four genetic polymorphisms (rs1027702 near <i>DUSP12</i>, rs10055201 in <i>IL31RA</i>, rs2619046 in <i>DDX4</i>, and rs11037575 in <i>HSD17B12</i> gene) that were associated with neuroblastoma susceptibility, especially for low-risk subjects.
|
28435286 |
2017 |
|
rs1039659576
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The aim of this study was to investigate whether the genetic polymorphisms MTHFR C677T and A1298C, MTR A2756G, TYMS 2R/3R and SLC19A1 G80A, involved in folate metabolism, increase the risk of neuroblastoma in Brazilian children.
|
24771227 |
2014 |
|
rs1045485
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
A missense SNP in exon 10 of the CASP8 gene SNP D302H was associated with worse overall and event-free survival in patients with MYCN-amplified neuroblastoma tumors.
|
25502557 |
2014 |
|
rs1047768
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
In this study with 256 neuroblastoma cases and 531 cancer-free controls, we investigated the effects of five potentially functional polymorphisms (rs2094258 C>T, rs751402 C>T, rs2296147 T>C, rs1047768 T>C and rs873601G>A) on neuroblastoma risk.
|
27019310 |
2016 |
|
rs1048108
|
|
Central neuroblastoma
|
|
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 |
|
rs104893855
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We demonstrate that both WT PHOX2B and the neuroblastoma-associated R100L missense and the CCHS-associated alanine expansion variants induce nuclear translocation of HPCAL1 in a Ca(2+)-independent manner, while the neuroblastoma-associated 676delG frameshift and K155X truncation mutants impair subcellular localization of HPCAL1, causing it to remain in the cytoplasm.
|
23873030 |
2014 |
|
rs104893856
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We identified two mutations, 600delC, a frameshift mutation in an individual with isolated, unifocal NB and G197D, a missense mutation that was present in a family with multiple individuals with NB but no evidence of autonomic dysfunction.
|
16691592 |
2006 |
|
rs104893936
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Collectively, the results demonstrated unambiguously that overexpression of beta-syn mutants (P123H and V70M) in neuroblastoma cells results in an enhanced lysosomal pathology.
|
17652097 |
2007 |
|
rs104893937
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Collectively, the results demonstrated unambiguously that overexpression of beta-syn mutants (P123H and V70M) in neuroblastoma cells results in an enhanced lysosomal pathology.
|
17652097 |
2007 |
|
rs104894103
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
CoQ10 deficiency has been identified in fibroblasts and muscle of AOA1 patients carrying the common W279X mutation, and aprataxin has been localized to mitochondria in neuroblastoma cells, where it enhances preservation of mitochondrial function.
|
25976310 |
2015 |
|
rs1051266
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The aim of this study was to investigate the association between MTHFR rs1801133 (C677T) and RFC-1 rs1051266 (G80A) genotypes with the risk of developing nephroblastoma and neuroblastoma.
|
25536437 |
2015 |
|
rs1052133
|
|
Central neuroblastoma
|
|
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 |
|
rs1052536
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
These results suggest that rs1052536 C>T and rs4796030 A>C are unrelated to neuroblastoma susceptibility in the Chinese population.
|
31737108 |
2019 |
|
rs1057519697
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We detected the ALK mutation (F1174C and R1275Q) in 2 (3.7%) of the 54 NB specimens.
|
21940108 |
2011 |
|
rs1057520018
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
A heterozygous missense mutation in STK11 (F354L) was identified in both the NB and FVPTC.
|
25751324 |
2015 |
|
rs1059111
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The neurofilament gene NEFL harbored three SNPs associated with neuroblastoma (rs11994014: Pcombined = 0.0050; OR, 0.88; rs2979704: Pcombined = 0.0072; OR, 0.87; rs1059111: Pcombined = 0.0049; OR, 0.86).
|
25312269 |
2014 |
|
rs10895322
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here we identify common variants at 11q22.2 within MMP20 that associate with neuroblastoma cases harboring 11q deletion (rs10895322), using GWAS in 113 European-American cases and 5109 ancestry-matched controls.
|
28924153 |
2017 |
|
rs11037575
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
In conclusion, we verified that the <i>HSD17B12</i> rs11037575 T allele might negatively associate with neuroblastoma risk.
|
28435286 |
2017 |
|
rs110420
|
|
Central neuroblastoma
|
|
0.010 |
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 |
|
rs11103603
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Maternal rs6776706 was associated with (RR: 0.49; 95% CI: 0.33-0.72, Q = 0.161) high-risk neuroblastoma and maternal rs11103603 (RR: 0.60; 95% CI: 0.45-0.79, Q = 0.127) was associated with neuroblastoma aged <1 year.
|
31279991 |
2019 |
|
rs11134527
|
|
Central neuroblastoma
|
|
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 |
|
rs11247957
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Herein, we evaluated the correlation of four potentially functional LIN28A SNPs (rs3811464 G>A, rs3811463 T>C, rs34787247 G>A, and rs11247957 G>A) and neuroblastoma susceptibility in 505 neuroblastoma patients and 1070 controls from four independent hospitals in China.
|
31747721 |
2020 |
|
rs1130409
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we conducted a three-center case-control study to evaluate the association between <i>APEX1</i> polymorphisms (rs1130409 T>G, rs1760944 T>G, and rs3136817 T>C) and neuroblastoma risk in Chinese children, consisting of 469 cases and 998 controls.
|
31341530 |
2019 |