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The Contribution of CD133 Gene Polymorphisms to Cancer Risk: Integrating Case-Control Evidence With Meta-Analysis
Xinyi Zhang1, Hang Zhou2, Yongwei Li2
1Department of Biological Science and Technology, School of Chemistry, Chemical Engineering and Life Sciences, Wuhan University of Technology, Wuhan, Hubei, China.
Genes, Chromosomes & Cancer
|August 12, 2026
Summary
This study investigated CD133 gene variations and cancer risk. Polymorphisms rs3130 and rs2240688 were linked to lung and gastric cancer susceptibility, respectively.
Area of Science:
- Genetics and Oncology
- Molecular Epidemiology
Background:
- Previous research on CD133 gene polymorphisms and cancer risk shows inconsistent findings.
- The CD133 gene is implicated in various cancers, making its polymorphisms potential biomarkers.
Purpose of the Study:
- To evaluate the association between four CD133 gene polymorphisms (rs10022537, rs2286455, rs2240688, rs3130) and the risk of liver, lung, and gastric cancers.
- To clarify the role of these polymorphisms in cancer susceptibility through a case-control study and meta-analysis.
Main Methods:
- A case-control study involving 480 liver cancer, 550 lung cancer, 460 gastric cancer patients, and 800 healthy controls from Hubei.
- Genotyping of CD133 polymorphisms using Sanger sequencing.
- Systematic meta-analysis to consolidate findings.
Main Results:
- The case-control study found rs10022537 associated with liver cancer risk, rs3130 with lung and liver cancer risk, and rs2240688 with lung cancer risk.
- Meta-analysis indicated rs3130 is linked to lung cancer risk in Chinese populations, and rs2240688 to gastric cancer risk.
- No significant associations were found for rs2286455 with any cancer type, nor for rs10022537 with lung or gastric cancer.
Conclusions:
- CD133 gene polymorphisms rs3130 and rs2240688 may act as susceptibility factors for lung and gastric cancer, respectively.
- Further large-scale studies in diverse populations are needed to validate these findings.
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