Possible association of Vitamin D receptor, caudal-related homeobox 2 polymorphism with the risk of cancer.

Objective: This study was conducted to find out the possible association of Vitamin D receptor, caudal-related homeobox 2 (VDR-Cdx2) polymorphism with cancer in the given study group.

Methods: In this study, 151 subjects (84 cases and 67 controls) were recruited from two local tertiary care hospitals of Karachi, Pakistan, suffering from various cancers including gastric cancer (GC), rectal cancer (RC), colon cancer (CC), and multiple myeloma followed by ethical approval from institutions and informed consent from all the participants. The genotyping of VDR-Cdx2 polymorphism was performed using tetra-primer amplification refractory mutation system-polymerase chain reaction method. The genotypic assortment/distribution in the control and disease groups was according to Hardy-Weinberg's equilibrium.

Results: The genotype frequencies of VDR-Cdx2 polymorphism in cancer patients were observed as: AA 1.2%, AG 32%, and GG 66.8% while in control group as; AA 7.5%, AG 50.7%, and GG was 41.8%. The results unveil that the genotype VDR-Cdx2 was found significantly different in cancer and control group ( < 0.01). The AG and GG genotypes were found to be associated with the cancer ( < 0.05). Therefore, these genotypes may be considered as the risk factors for cancer. However, the frequencies of "A" and "G" alleles were not significantly different between two groups.

Conclusion: The observed single-nucleotide polymorphism of VDR-Cdx2 gene may be considered as a risk factor for the cancer in this study group. The AG and GG genotypes established an association with various cancers including GC, RC, CC, and multiple myeloma in Pakistani population. Further investigations examining large data are required to compare the role of VDR-Cdx2 polymorphism in cancer etiology in related population.