Related Experiment Video

Updated: Jul 9, 2025

Efficient Purification and LC-MS/MS-based Assay Development for Ten-Eleven Translocation-2 5-Methylcytosine Dioxygenase
10:33

Efficient Purification and LC-MS/MS-based Assay Development for Ten-Eleven Translocation-2 5-Methylcytosine Dioxygenase

Published on: October 15, 2018

8.3K

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

Lei Lin1, Bo Wang2, Xinxin Zhang1

  • 1Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, Guangdong, China.

IUBMB Life
|November 28, 2023
PubMed

Insights

Specific TET2 gene variations significantly increase neuroblastoma risk. These polymorphisms also reduce TET2 expression and increase PPA2 expression, correlating with higher risk and poorer prognosis in neuroblastoma patients.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • 5-methylcytosine (m5C) is a critical RNA modification.
  • TET2 acts as a demethylase for m5C and is recognized as a tumor suppressor.
  • The specific impact of TET2 gene polymorphisms on neuroblastoma development remains uninvestigated.

Purpose of the Study:

  • To investigate the association between TET2 gene polymorphisms and neuroblastoma susceptibility.
  • To explore the effect of these polymorphisms on TET2 gene expression and its correlation with neuroblastoma risk and prognosis.
  • To examine the relationship between TET2 polymorphisms and the expression of nearby genes, such as inorganic pyrophosphatase 2 (PPA2).

Main Methods:

  • Genotyping of TET2 gene polymorphisms (rs10007915 and rs7670522) in 402 neuroblastoma patients and 473 controls using the TaqMan method.
  • Multivariate logistic regression analysis to assess the impact of polymorphisms on neuroblastoma susceptibility.
  • Analysis of gene expression data from the Genotype-Tissue Expression (GTEx) database and R2 platform.
  • Non-parametric testing and Kaplan-Meier analysis to evaluate gene expression correlations with neuroblastoma risk and prognosis.

Main Results:

  • TET2 polymorphisms rs10007915 (G>C) and rs7670522 (A>C), as well as combined risk genotypes, significantly elevate neuroblastoma risk.
  • These specific TET2 polymorphisms are linked to reduced TET2 mRNA expression.
  • Lower TET2 expression correlates with high-risk neuroblastoma, MYCN amplification, and poor prognosis.
  • TET2 polymorphisms rs10007915 and rs7670522 are associated with increased PPA2 mRNA expression.
  • Elevated PPA2 expression is also linked to high-risk neuroblastoma, MYCN amplification, and poor prognosis.

Conclusions:

  • TET2 gene polymorphisms rs10007915 G>C and rs7670522 A>C are significant risk factors for neuroblastoma susceptibility.
  • These polymorphisms influence neuroblastoma by altering TET2 and PPA2 gene expression, impacting disease risk and prognosis.
  • Further research is warranted to elucidate the precise molecular mechanisms underlying these associations.
Keywords:
TET2m5C modificationneuroblastomapolymorphismsusceptibility

More Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

9.8K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.7K

Related Concept Videos

The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.1K
Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
4.5K