Background and aims: Different epidemiological studies report the protective effect on colorectal cancer (CRC) exerted by vitamin D(3) intake, estrogen replacement therapy, and increase of the risk of microsatellite instability (MSI) in CRC by withdrawal of estrogens. The aim of our study was to search for association between CRC and polymorphisms in estrogen receptor-alpha (ER-alpha) and Vitamin D receptor (VDR) genes.
Materials and methods: We analyzed the PvuII and XbaI polymorphisms from the ER-alpha gene and the BsmI polymorphism of the VDR gene in 140 patients with CRC (subsequently divided according to their MSI status) and 94 controls.
Results: We have demonstrated that the presence of the PvuII pp genotype increased the risk of developing MSI(+) tumors about three times compared to MSI(-) tumors [odds ratio (OR)=3.09, 95% confidence interval (CI) 0.88-10.91]. The effect of the XbaI xx genotype was similar (OR=2.08, 95% CI 0.49-8.81). Our results for the VDR BsmI polymorphism showed an increased risk for CRC in bb carriers (OR=1.8, 95% CI 0.81-4.05).
Conclusion: We conclude that PvuII and XbaI polymorphisms in the ER-alpha gene were associated with the risk of developing MSI in CRC patients. The BsmI polymorphism in the VDR gene was linked to the risk of developing CRC.