Impact of PTEN IVS4 Polymorphism (rs3830675) on Cancer Susceptibility: An Updated Meta-analysis

Background/aim: Phosphatase and tensin homolog (PTEN) acts as a tumor suppressor gene through the action of its phosphatase protein product. We performed a meta-analysis to evaluate their relationship.

Materials and methods: A comprehensive database search was performed. Odds ratios (OR) with 95% confidence intervals (CI) were calculated to assess the association between PTEN IVS4 polymorphism and cancer.

Results: The meta-analysis indicated that PTEN IVS4 (-/-) genotype was significantly associated with the risk of cancer (OR=1.47, 95% CI=1.11-1.84), especially for digestive cancer (OR=1.67, 95% CI=1.28-2.18) compared to the (+/+) genotype. Moreover, the (-) allele of PTEN IVS4 polymorphism was also significantly associated with the risk of cancer (OR=1.27, 95% CI=1.14-1.41), especially for digestive cancer (OR=1.42, 95% CI=1.16-1.74) compared to the (+) allele. No significant association was observed between PTEN IVS4 (+/-) genotype and risk of cancer.

Conclusion: PTEN IVS4 (-/-) genotype was significantly associated with increased risk of cancer especially for digestive tract cancer compared to the (+/+) genotype. A similar phenomenon was observed in the (-) allele of PTEN IVS4 polymorphism compared to the (+) allele and the recessive effect model.