ABCB1 variants C3435T and T129C are not associated with colorectal cancer risk

Afr Health Sci. 2019 Sep;19(3):2476-2483. doi: 10.4314/ahs.v19i3.23.

Abstract

Background: Colorectal cancer (CRC) is one of the most prevalent cancers in Saudi Arabia that is highly characterized with poor survival rate and advanced metastasis. Many studies contribute this poor outcome to the expression of ABC transporters on the surface of cancer cells.

Objectives: In this study, two ABCB1 variants, C3435T and T129C, were examined to evaluate their contribution to CRC risk.

Methods: 125 subjects (62 CRC patients and 63 healthy controls) were involved. The DNA was isolated and analyzed with PCR-RFLP to determine the different genotypes. The hardy-Weinberg equilibrium was performed to determine genotype distribution and allele frequencies. Fisher's exact test (two-tailed) was used to compare allele frequencies between patients and control subjects.

Results: The study showed that for SNP C3435T, the population of both CRC patients and controls were out of Hardy-Weinberg equilibrium. Genotype distribution for CRC patients was (Goodness of fit χ2 = 20, df= 1, P≤0.05), whereas, for the controls the genotype distribution was (Goodness of fit χ2 = 21, df =1, P ≤0.05). For SNP T129C, all subjects showed normal (TT) genotype.

Conclusion: There was no significant association between ABCB1 3435C>T and 129T>C polymorphisms with CRC risk.

Keywords: ABCB1 gene; Colorectal cancer; PCR-RFLP; SNP C3435T; SNP T129C; Saudi Arabia.

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily B / genetics
  • Aged
  • Aged, 80 and over
  • Case-Control Studies
  • Colorectal Neoplasms / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide
  • Saudi Arabia

Substances

  • ABCB1 protein, human
  • ATP Binding Cassette Transporter, Subfamily B