Related Experiment Video
Updated: Jan 9, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
ALKBH5 gene polymorphisms and Wilms tumour susceptibility in children from East China: a case-control study
Jiabin Yu1, Yizhen Wang2, Shouhua Zhang3
1Qingdao Women and Children's Hospital, Qingdao, China.
Insights
The ALKBH5 rs8400 G>A gene variant increases Wilms tumour risk in children. This finding highlights the role of ALKBH5 in paediatric renal malignancy susceptibility.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Wilms tumour is the most common paediatric kidney cancer.
- The ALKBH5 gene, involved in RNA modification, is implicated in cancer but its role in Wilms tumour is unclear.
Purpose of the Study:
- To investigate the association between ALKBH5 gene polymorphisms and Wilms tumour susceptibility.
Main Methods:
- A case-control study was conducted with 416 Wilms tumour patients and 936 controls from East China.
- Two ALKBH5 single-nucleotide polymorphisms (SNPs), rs1378602 G>A and rs8400 G>A, were genotyped.
Main Results:
- The rs8400 AA genotype was linked to a higher Wilms tumour risk (OR=1.39).
- Individuals with two risk genotypes had significantly increased risk (OR=1.43).
- Elevated risk was notable in children over 18 months, females, and those with early-stage disease (I/II).
Conclusions:
- The ALKBH5 rs8400 G>A polymorphism is associated with increased Wilms tumour susceptibility in Eastern Chinese children.
Background:
Wilms tumour is the most common paediatric renal malignancy. The RNA demethylase alkylation repair homologue protein 5 (ALKBH5), known for its role in reversing N6-methyladenosine modification, has been increasingly implicated in tumourigenesis. Its specific role in Wilms tumour, however, remains largely unexplored. We conducted a case-control study to investigate the association between ALKBH5 gene polymorphisms and susceptibility to Wilms tumour.
Methods:
Our study included 416 patients and 936 cancer-free controls from East China. We genotyped two ALKBH5 single-nucleotide polymorphisms: rs1378602 G>A and rs8400 G>A.
Results:
We found that the rs8400 AA genotype was significantly associated with an increased risk of Wilms tumour compared with GG/GA carriers (adjusted OR=1.39, 95% CI 1.04 to 1.85, p=0.025). Furthermore, individuals carrying two risk genotypes faced a significantly higher risk than those with zero or one risk genotype (adjusted OR=1.43, 95% CI 1.07 to 1.92, p=0.017). Stratified analysis revealed that this elevated risk was particularly pronounced in specific subgroups: children older than 18 months, females and those diagnosed with clinical stages I and II.
Conclusion:
Our findings suggest that the ALKBH5 rs8400 G>A polymorphism is associated with increased susceptibility to Wilms tumour in the Eastern Chinese paediatric population.
More Related Videos
Related Concept Videos
The Retinoblastoma Gene
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,...
Single Nucleotide Polymorphisms-SNPs
Pleiotropy
Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Animal Mitochondrial Genetics

