Background: Despite the unknown etiology of colorectal cancer (CRC), previous studies have suggested a potential contribution of genetics and environmental factors to CRC development. Therefore, investigating specific molecular pathways can provide valuable insights into CRC. This study aimed to explore the potential association between the SNP rs228570 (C/T) in the VDR FokI gene and rs7975232 (G/T) in the VDR ApaI gene with CRC. Additionally, the relationship between vitamin D levels, VDR FokI, and VDR ApaI polymorphisms was examined to evaluate the risk of colorectal cancer.
Methods: The study included a total of 140 participants, with 70 individuals diagnosed with CRC and 70 healthy controls. Vitamin D serum levels were measured using the ELFA technique in both CRC patients and the healthy control group. The prevalence of mutations in the VDR FokI rs228570 (C/T) and VDR ApaI rs7975232 (G/T) genes, as well as single nucleotide polymorphisms (SNPs), were evaluated in the CRC patient and control groups using the PCR-RFLP method.
Results: The results indicated a significant decrease (p < 0.05) in serum vitamin D levels in patients with colorectal cancer (CRC) compared to healthy controls. However, there was no significant difference in the genotype prevalence of VDR FokI rs228570 (C/T) and VDR ApaI rs7975232 (G/T), as well as allele frequencies between the CRC and control groups.
Conclusion: The findings suggest that serum vitamin D levels could serve as potential biomarkers for CRC. However, the polymorphisms in the VDR FokI and VDR ApaI genes are not considered risk factors for CRC in Iraq. This implies that further research focusing on additional loci or VDR is necessary.