Abstract

Colorectal cancer represents the third cancer worldwide. Studies showed thatinsufficient levels of vitamin D may result in colorectal cancer. Genetic variations in genes controlling vitamin D activity would play a role in determining susceptibility to colorectal cancer. Aim of the work: to study the different genotypes of VDR polymorphisms and detect the association between serum levels of 25(OH)VitD and 1,25(OH)2VitD among sample of Egyptian patients with different stages of colorectal cancer. Methods: Ninety patients (60 with different stages of colorectal cancer and 30 patients with benign pathology of the colon) together with 30 healthy controls were examined using PCR-RFLP analysis for FokI, ApaI and TaqI polymorphisms. Results: Genotype distribution for ApaI polymorphism showed no statistically significant difference between patients (colorectal cancer and benign) and controls with p = 0.1. There was no statistically significant difference in FokI polymorphism where p = 0.26 and genotype distribution for TaqI was also insignificant with p = 0.016. The median serum level of 25(OH)VitD was low in cancer cases compared to the control group and benign cases with (p 0.001). There was no statisticallysignificant difference of median serum level of 1,25(OH)2VitD between benign and cancer cases. There was statistically significant difference of median serum level of 25(OH)VitD and 1,25(OH)2VitD between stage I and stage II with (p = 0.004) and (p 0.001), and between stage I and stage III with (p = 0.001)and (p 0.001), but no statistically significant difference between stage II and III with (p = 0.514). Conclusions: There is ethnic variability in vitamin D receptor gene polymorphisms. The lack of significant association of the studied gene polymorphism in our population suggests that its association with other functionally known gene polymorphism might have a role in the pathogenesis of colorectal cancer.

Highlights

  • Colorectal cancer represents the third most common cancer worldwide, second to lung and gastric cancers [1]

  • The relevance of vitamin D receptor (VDR) gene restriction fragment length polymorphisms for various types of cancer has been investigated by a great number of studies

  • There was statistically significant lower serum level of 25(OH)VD of colorectal cancer cases compared to the control group with (p < 0.001), there was no statistically significant difference between benign cases and controls regarding 25(OH)VD with (p = 0.288)

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Summary

Introduction

Colorectal cancer represents the third most common cancer worldwide, second to lung and gastric cancers [1]. It is estimated that there are more than 370,000 cases of colon and rectal cancer diagnosed in Europe every year, with 200,000 cases resulting in death. It has been proposed that some categories of external agents, including physical, chemical, and biological carcinogens, may contribute to the development of this disease, and the role of these factors in carcinogenesis would depend largely on genetic factors. A recent study showed that insufficient levels of vitamin D may result in colorectal cancer [2]. The relevance of vitamin D receptor (VDR) gene restriction fragment length polymorphisms for various types of cancer has been investigated by a great number of studies. It has been hypothesized that VDR polymorphisms may influence both the risk of cancer occurrence and prognosis. Genetic variations in genes controlling vitamin D activity would be hypothesized to play an important role in determining susceptibility to colorectal cancer

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