Genetic variations in VDR associated with prostate cancer risk and progression in a Korean population

Gene. 2014 Jan 1;533(1):86-93. doi: 10.1016/j.gene.2013.09.119. Epub 2013 Oct 9.


Low levels of vitamin D are implicated as a potential risk factor for prostate cancer, and the vitamin D receptor (VDR) gene may be important in the onset and progression of prostate cancer. In this study, sequence variants in the VDR gene were investigated in a Korean study cohort to determine whether they are associated with prostate cancer risk. We evaluated the association between 47 single nucleotide polymorphisms (SNPs) in the VDR gene and prostate cancer risk as well as clinical characteristics (prostate-specific antigen level, clinical stage, pathological stage and Gleason score) in Korean men (272 prostate cancer patients and 173 benign prostatic hyperplasia patient who underwent a prostate biopsy, which was negative for malignancy) using unconditional logistic regression. The statistical analysis suggested that two VDR sequence variants (rs2408876 and rs2239182) had a significant association with prostate cancer risk (odds ratio [OR]. 1.41; p=0.03; OR, 0.73; p=0.05, respectively). Logistic analyses of the VDR polymorphisms with several prostate cancer related factors showed that several SNPs were significant; nine SNPs to PSA level, three to clinical stage, two to pathological stage, and three SNPs to the Gleason score. The results suggest that some VDR gene polymorphisms in Korean men might not only be associated with prostate cancer risk but also significantly related to prostate cancer-related risk factors such as PSA level, tumor stage, and Gleason score. However, current limitation for small cohort with not-healthy control group might have false positive effects; therefore it should be overcome via further large-scale validating studies.

Keywords: BPH; FDR; GWAS; HWE; Hardy–Weinberg equilibrium; LD; MAF; OR; PCR; PSA; Polymorphism; Prostate cancer; SNP; SpD; TURP; VDR; Vitamin D receptor; benign prostate hyperplasia; false discovery rate; genome-wide association studies; linkage disequilibrium; minor allele frequency; odds ratio; polymerase chain reaction; prostate-specific antigen; single nucleotide polymorphism; spectral decomposition; transurethral resection of the prostate; vitamin D receptor.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Disease Progression
  • Genetic Predisposition to Disease*
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Prostatic Neoplasms / genetics*
  • Prostatic Neoplasms / pathology
  • Receptors, Calcitriol / genetics*
  • Republic of Korea
  • Risk Factors


  • Receptors, Calcitriol