Abstract

Molecular epidemiologic studies previously reported that 1,25-dihydroxy vitamin D3 (1,25(OH)2 D3) appears to influence cancer risk. It exerts its activity through the intracellular vitamin D receptor (VDR), which regulates the transcription of genes. This study aimed to investigate the genetic association of VDR polymorphisms with renal cell carcinoma (RCC) risk in the Chinese population. The genotypes of five VDR polymorphisms (TaqI, BsmI, Cdx-2, ApaI, and FokI) were studied using polymerase chain reaction in 302 RCC patients and 302 healthy controls. ApaI variant AA and AC genotypes were found to be associated with a significantly increased risk of RCC compared with the CC genotype (OR = 2.60, 95% CI = 1.39–4.85 for AA vs. CC, and OR = 1.52, 95% CI = 1.08–2.13 for AC vs. CC). The AA genotype was also associated with a higher Fuhrman grade (OR = 2.87, 95% CI = 1.15–7.16 for AA vs. CC). No significant difference was found between the other four VDR polymorphisms and RCC risk. Our study suggests that VDR ApaI genotypes may be involved in the increased risk and progression of RCC in the Chinese Han population.

Highlights

  • Molecular epidemiologic studies previously reported that 1,25-dihydroxy vitamin D3 (1,25(OH)[2] D3) appears to influence cancer risk

  • This study aimed to investigate the genetic association of vitamin D receptor (VDR) polymorphisms with renal cell carcinoma (RCC) risk in the Chinese population

  • We observed a significant association between the VDR ApaI variant and RCC risk in the Chinese Han population

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Summary

Introduction

Molecular epidemiologic studies previously reported that 1,25-dihydroxy vitamin D3 (1,25(OH)[2] D3) appears to influence cancer risk. It exerts its activity through the intracellular vitamin D receptor (VDR), which regulates the transcription of genes. This study aimed to investigate the genetic association of VDR polymorphisms with renal cell carcinoma (RCC) risk in the Chinese population. Five well-known SNPs of human VDR, FokI (C/T), BsmI (A/G), ApaI (A/C), TaqI (T/C), and Cdx[2] (A/G), were previously extensively studied for www.nature.com/scientificreports/. Their association with cancer risk[8,10]. There is still a scarcity of data regarding the association of VDR genotype with RCC patients, and the results has not been consistent[11,12,13]

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