A candidate intronic CYP24A1 gene variant affects the risk of colorectal cancer

Biomark Med. 2020 Jan;14(1):23-29. doi: 10.2217/bmm-2019-0189. Epub 2019 Dec 5.


Aim: rs2585428 and rs4809960 polymorphisms were significantly associated with overall cancer risk, but there is no evidence regarding the overall colorectal cancer (CRC) risk. Materials & methods: A total of 505 subjects, including 246 patients with CRC and 259 noncancer controls participated in the study. The genotyping was performed using tetra-primer amplification refractory mutation systems PCR. Results: Analysis of genotypes revealed that CYP24A1 rs4809960 CC genotype decreased the risk of CRC (p = 0.009). In addition, the genotype frequencies showed a significant difference under the dominant and recessive inheritance models (p = 0.019 and p = 0.02, respectively). Conclusion: Our findings indicate that the CYP24A1 rs4809960 polymorphism decreased the risk of CRC in the studied population.

Keywords: CRC; CYP24A1; SNP; colorectal cancer; intronic variant; single nucleotide polymorphism; vitamin D.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers, Tumor / genetics*
  • Case-Control Studies
  • Colorectal Neoplasms / epidemiology*
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms / pathology
  • Female
  • Follow-Up Studies
  • Genetic Predisposition to Disease*
  • Humans
  • Introns*
  • Iran / epidemiology
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Prognosis
  • Risk Factors
  • Vitamin D3 24-Hydroxylase / genetics*


  • Biomarkers, Tumor
  • CYP24A1 protein, human
  • Vitamin D3 24-Hydroxylase