NSUN2 gene rs13181449 C&gt;T polymorphism reduces neuroblastoma risk

Lin, Lei; Deng, Chang‐Mi; Zhou, Chunlei; Zhang, Xinxin; Zhu, Jinhong; Liu, Jiabin; Wu, Haiyan; He, Jing

doi:10.1016/j.gene.2022.147120

Cited by 12 publications

(12 citation statements)

References 51 publications

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“…Based on the important role of m5C modification in cancer, we focus on polymorphisms of m5C modification core genes. Our previous study showed that rs13181449 C > T in the m5C methyltransferase gene NSUN2 confers reduced risk of neuroblastoma 46 . In recent years, the m5C demethylase gene TET1 has been proven to mediate the occurrence and development of some cancers 41–44 .…”

Section: Discussionmentioning

confidence: 99%

“…Our previous study showed that rs13181449 C > T in the m5C methyltransferase gene NSUN2 confers reduced risk of neuroblastoma. 46 In recent years, the m5C demethylase gene TET1 has been proven to mediate the occurrence and development of some cancers. [41][42][43][44] However, the important role of TET1 gene polymorphisms in cancer, including neuroblastoma, has not been revealed.…”

Section: Discussionmentioning

confidence: 99%

“…This case-control study included 402 children with neuroblastoma and 473 noncancer children (Table S1) recruited from the Children's Hospital of Nanjing Medical University in Jiangsu Province. 46 Epidemiological data were collected using structured questionnaires. The inclusion criterion for patients was neuroblastoma confirmed by biopsy or histology.…”

Section: Study Subjectsmentioning

confidence: 99%

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Functional polymorphisms of the TET1 gene increase the risk of neuroblastoma in Chinese children

Chang

Lin

Zhou

et al. 2023

J Cellular Molecular Medi

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Common genetic mutations are absent in neuroblastoma, one of the most common childhood tumours. As a demethylase of 5‐methylcytosine (m5C) modification, TET1 plays an important role in tumourigenesis and differentiation. However, the association between TET1 gene polymorphisms and susceptibility to neuroblastoma has not been reported. Three TET1 gene polymorphisms (rs16925541 A > G, rs3998860 G > A and rs12781492 A > C) in 402 Chinese patients with neuroblastoma and 473 cancer‐free controls were assessed using TaqMan. Multivariate logistic regression analysis was used to evaluate the association between TET1 gene polymorphisms and susceptibility to neuroblastoma. The GTEx database was used to analyse the impact of these polymorphisms on peripheral gene expression. The relationship between gene expression and prognosis was analysed using Kaplan–Meier analysis with the R2 platform. We found that both rs3998860 G > A and rs12781492 A > C were significantly associated with increased neuroblastoma risk. Stratified analysis further showed that rs3998860 G > A and rs12781492 A > C significantly increased neuroblastoma risk in certain subgroups. In the combined risk genotype model, 1–3 risk genotypes significantly increased risk of neuroblastoma compared with the 0 risk genotype. rs3998860 G > A and rs12781492 A > C were significantly associated with increased STOX1 mRNA expression in adrenal and whole blood, and high expression of STOX1 mRNA in adrenal and whole blood was significantly associated with worse prognosis. In summary, TET1 gene polymorphisms are significantly associated with increased neuroblastoma risk; further research is required for the potential mechanism and therapeutic prospects in neuroblastoma.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Study Subjectsmentioning

confidence: 99%

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Functional polymorphisms of the TET1 gene increase the risk of neuroblastoma in Chinese children

Chang

Lin

Zhou

et al. 2023

J Cellular Molecular Medi

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“…In this study, we recruited 402 neuroblastoma patients and 473 cancer‐free controls from Jiangsu Province (Table S1). 27 The neuroblastoma patients were selected based on criteria that are confirmed by biopsy or histology. Moreover, the age and gender distributions of cases and cancer‐free controls were matched.…”

Section: Methodsmentioning

confidence: 99%

miR‐100 rs1834306 a > G polymorphism decreases neuroblastoma risk in Chinese children

Han,

Chang,

Lin

et al. 2023

Cancer Reports

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BackgroundNeuroblastoma is a common malignant tumor stemming from the sympathetic nervous system in children, which is often life‐threatening. The genetics of neuroblastoma remains unclear. Studies have shown that miRNAs participate in the regulation of a broad spectrum of biological pathways. The abnormity in the miRNA is associated with the risk of various cancers, including neuroblastoma. However, research on the relationship of miRNA polymorphisms with neuroblastoma susceptibility is still in the initial stage.MethodsIn this research, a retrospective case–control study was conducted to explore whether miR‐100 rs1834306 A > G polymorphism is associated with neuroblastoma susceptibility. We enrolled 402 cases and 473 controls for the study. The logistic regression analysis was adopted to calculate odds ratios (ORs) and 95% confidence intervals (CIs) for the association between miR‐100 rs1834306 A > G and neuroblastoma risk.ResultsOur results elucidated that the miR‐100 rs1834306 A > G polymorphism was associated with the decreased risk of neuroblastoma (AG versus AA: adjusted OR = 0.72, 95% CI = 0.53–0.98, and P = 0.038). The subsequent stratified analysis further found that rs1834306 AG/GG genotype reduced the risk of neuroblastoma in the subgroup with tumors of the mediastinum origin (adjusted OR = 0.63, 95% CI = 0.41–0.95, and P = 0.029).ConclusionsIn summary, miR‐100 rs1834306 A > G polymorphism was shown to associate with decreased neuroblastoma risk in Chinese children, especially for neuroblastoma of mediastinum origin. This conclusion needs to be verified in additional large‐size case–control studies.

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“…The subjects of this case-control study were 402 children with neuroblastoma (case group) and 473 cancer-free children (control group) recruited from the Children's Hospital of Nanjing Medical University (Table S1). 27,46 The case group and control group were matched based on age, gender, and race distribution. All cases were histologically confirmed.…”

Section: Study Subjectsmentioning

confidence: 99%

Functional TET2 gene polymorphisms increase the risk of neuroblastoma in Chinese children

Lin,

Wang,

Zhang

et al. 2023

IUBMB Life

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The 5‐methylcytosine (m5C) is the key chemical modification in RNAs. As one of the demethylases in m5C, TET2 has been shown as a tumor suppressor. However, the impact of TET2 gene polymorphisms on neuroblastoma has not been elucidated. 402 neuroblastoma patients and 473 controls were genotyped for TET2 gene polymorphisms using the TaqMan method. The impact of TET2 gene polymorphisms on neuroblastoma susceptibility was determined using multivariate logistic regression analysis. We also adopted genotype‐tissue expression database to explore the impact of TET2 gene polymorphisms on the expression of host and nearby genes. We used the R2 platform and Sangerbox tool to analyze the relationship between gene expression and neuroblastoma risk and prognosis through non‐parametric testing and Kaplan–Meier analysis, respectively. We found the TET2 gene polymorphisms (rs10007915 G > C and rs7670522 A > C) and the combined 2–5 risk genotypes can significantly increase neuroblastoma risk. Stratification analysis showed that these significant associations were more prominent in certain subgroups. TET2 rs10007915 G > C and rs7670522 A > C are significantly associated with reduced expression of TET2 mRNA. Moreover, lower expression of TET2 gene is associated with high risk, MYCN amplification, and poor prognosis of neuroblastoma. The rs10007915 G > C and rs7670522 A > C are significantly related to the increased expression of inorganic pyrophosphatase 2 mRNA, and higher expression of PPA2 gene is associated with high risk, MYCN amplification, and poor prognosis of neuroblastomas. In summary, TET2 rs10007915 G > C and rs7670522 A > C significantly confer neuroblastoma susceptibility, and further research is needed to investigate the underlying mechanisms.

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NSUN2 gene rs13181449 C>T polymorphism reduces neuroblastoma risk

Cited by 12 publications

References 51 publications

Functional polymorphisms of the TET1 gene increase the risk of neuroblastoma in Chinese children

Functional polymorphisms of the TET1 gene increase the risk of neuroblastoma in Chinese children

miR‐100 rs1834306 a > G polymorphism decreases neuroblastoma risk in Chinese children

Functional TET2 gene polymorphisms increase the risk of neuroblastoma in Chinese children

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