Significant association between the Axin2 rs2240308 single nucleotide polymorphism and the incidence of prostate cancer
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Updated: Apr 27, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Chao Ma1, Chunxiao Liu1, Peng Huang2
1Department of Urology, Zhujiang Hospital, Southern Medical University, Guangzhou, Guangdong, P.R. China.
Abstract:
The Wnt signaling pathway plays a crucial role in human cancer development, and axis inhibition protein 2 (Axin2) is a master scaffold protein involved in Wnt signaling. Axin2 negatively regulates Wnt signaling and acts as a tumor suppressor protein. The present study evaluated the association between the Axin2 single nucleotide polymorphism (SNP) rs2240308 [guanine (G)/adenine (A)] and the incidence of prostate cancer. In total, 103 patients with prostate cancer and 100 cancer-free control males were included in this case-control study, and were genotyped using the genomic DNA extracted from peripheral blood samples. The results revealed a higher incidence of prostate cancer in the subjects with the homozygous GG genotype and a reduced cancer incidence in the patients with the GA genotype of the rs2240308 SNP (G/A) in the Axin2 gene. The adjusted odds ratio for carriers with the GA genotype was 0.377 (95% CI, 0.206-0.688; P=0.001) and that for the AA genotype was 0.830 (95% CI, 0.309-2.232; P=0.712) compared with the GG genotype. Therefore, the GA genotype was found to exhibit a protective effect that decreased the risk of prostate cancer. To the best of our knowledge, this is the first study to demonstrate the significant association between this SNP (rs2240308, G/A) and the risk of prostate cancer. This association indicates the possibility that the variations in the Axin2 gene in this position may play a significant role in promoting the development of cancer in the prostate. We believe that the Axin2 SNP (rs2240308) could be a useful biomarker for the predisposition and early diagnosis of the disease.
Insights
The study found that the GA genotype of the Axin2 gene SNP rs2240308 is associated with a reduced risk of prostate cancer, suggesting it may be a protective factor and a potential biomarker for early diagnosis.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- The Wnt signaling pathway is integral to human cancer development.
- Axis inhibition protein 2 (Axin2) is a key scaffold protein in Wnt signaling, acting as a tumor suppressor.
- Prostate cancer is a significant health concern, and understanding its genetic underpinnings is crucial.
Purpose of the Study:
- To investigate the association between the Axin2 single nucleotide polymorphism (SNP) rs2240308 (G/A) and prostate cancer incidence.
- To determine if specific genotypes of rs2240308 confer a risk or protective effect against prostate cancer.
- To explore the potential of Axin2 SNP rs2240308 as a biomarker for prostate cancer predisposition and early detection.
Main Methods:
- A case-control study involving 103 prostate cancer patients and 100 cancer-free male controls.
- Genotyping of the Axin2 SNP rs2240308 (G/A) using genomic DNA extracted from peripheral blood samples.
- Statistical analysis to calculate odds ratios and confidence intervals for different genotypes.
Main Results:
- A higher incidence of prostate cancer was observed in subjects with the homozygous GG genotype.
- The GA genotype of Axin2 SNP rs2240308 showed a significantly reduced cancer incidence (OR=0.377, P=0.001), indicating a protective effect.
- The AA genotype did not show a significant association with prostate cancer risk (OR=0.830, P=0.712) compared to the GG genotype.
Conclusions:
- The GA genotype of the Axin2 gene SNP rs2240308 exhibits a protective effect, significantly decreasing the risk of prostate cancer.
- This finding suggests that variations in the Axin2 gene at this position may influence prostate cancer development.
- The Axin2 SNP rs2240308 could serve as a valuable biomarker for prostate cancer predisposition and early diagnosis.
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