Association of L432V (rs1056836) polymorphism of the CYP1B1 gene with the increased risk of colorectal cancer in the population of Central Russia
Background: Colon malignancies are one of the most common worldwide. Different pro-carcinogenic agents such as polycyclic aromatic hydrocarbons (PAH) and heterocyclic aromatic amines can potentially play a key role in the malignant transformation of cells by interacting with DNA. The enzyme of the 1st phase of xenobiotic biotransformation CYP1B1 is involved in the metabolic activation of various carcinogens. The aim of the study: The aim of our study was to investigate the association between common SNP rs1056836 CYP1B1 and the risk of CRC in the population of Central Russia. Materials and methods: A total of 256 patients with colorectal cancer (134 males, 122 females) and 608 age- and sex-matched healthy controls (279 males, 329 females) were recruited for the study. Genotyping of single nucleotide polymorphism L432V (rs1056836) CYP1B1 were done using Taq-Man-based assays. Results: Single nucleotide polymorphism rs1056836 (substitution L432V) CYP1B1 was associated with the increased risk of colorectal cancer in the population of Central Russia after adjustment for gender, age: ORadj=1.34; 95%CIadj=1.08–1.66; Padj=0.01. Bioinformatic analysis showed the spectrum of transcription factors binding with low-risk C (L) allele are involved in regulation of differentiation of CD8+ alpha-beta T cells (FDR=7.57×10-3) and activation of CD8+ of alpha-beta T cells (P=3.47×10-5, FDR=2.63×10-2). Transcription factors binding with high-risk V allele are not involved in T cell dependent mechanisms of cancer immunoediting. Conclusion: Thus, SNP rs1056836 CYP1B1 is associated with the increased risk of colorectal cancer in the population from Central Russia.
Moskalev AS. Association of L432V (rs1056836) polymorphism of the CYP1B1 gene with the increased risk of colorectal cancer in the population of Central Russia. Research Results in Biomedicine. 2020;6(3):318-322.
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