Genetic polymorphisms in the Wnt/β-catenin pathway genes as predictors of tumor development and survival in patients with hepatitis B virus-associated hepatocellular carcinoma

Clin Biochem. 2016 Jul;49(10-11):792-801. doi: 10.1016/j.clinbiochem.2016.01.025. Epub 2016 Mar 9.

Abstract

Objectives: Wnt/β-catenin signaling has a pivotal role in the pathogenesis of hepatocellular carcinoma (HCC). The present study aimed to determine whether genetic variation in the Wnt/β-catenin signaling pathway is associated with the development and/or progression of HCC and the survival of patients with hepatitis B virus (HBV)-associated HCC.

Design and methods: We assessed seven single nucleotide polymorphisms (SNPs) of the AXIN1, AXIN2, CTNNB1, and WNT2 genes in 245 patients with HBV-associated HCC and 483 chronic HBV carriers without HCC. We analyzed the association of each SNP with HCC development or progression and overall survival.

Results: The CTNNB1 rs3864004 A allele was associated with a decreased risk of HCC development (P=0.049). Haplotype analysis revealed a significantly higher frequency of CTNNB1 G-A/G-A haplotype at rs3864004 and rs4135385 positions in patients with HCC than in chronic HBV carriers without HCC (P=0.042). The AXIN1 rs1805105 T>C SNP was associated with small tumor size and early tumor stage and the WNT2 rs39315 G allele was associated with advanced tumor stage in HCC. In Kaplan-Meier analysis, carriers of the AXIN1 rs214252 C allele showed longer survival than those with the TT genotype (P=0.020). In multivariate Cox regression analysis, absence of CTNNB1 haplotype A-A at rs3864004 and rs4135385 positions and advanced tumor stage were independent poor predictors of patient survival in patients with HCC.

Conclusion: These findings suggest that the genetic polymorphisms in CTNNB1 gene might affect tumor development and survival in patients with HBV-associated HCC.

Keywords: CTNNB1 AXIN1; Hepatitis B virus; Hepatocellular carcinoma; Single nucleotide polymorphism.

Publication types

  • Comparative Study

MeSH terms

  • Adult
  • Alleles
  • Biomarkers, Tumor / metabolism*
  • Carcinoma, Hepatocellular / etiology
  • Carcinoma, Hepatocellular / mortality*
  • Carcinoma, Hepatocellular / pathology
  • Case-Control Studies
  • Female
  • Follow-Up Studies
  • Genetic Predisposition to Disease
  • Genotype
  • Haplotypes / genetics
  • Hepatitis B virus / genetics
  • Hepatitis B, Chronic / complications*
  • Hepatitis B, Chronic / genetics
  • Hepatitis B, Chronic / virology
  • Humans
  • Liver Neoplasms / etiology
  • Liver Neoplasms / mortality*
  • Liver Neoplasms / pathology
  • Male
  • Middle Aged
  • Neoplasm Staging
  • Polymorphism, Single Nucleotide / genetics*
  • Prognosis
  • Survival Rate
  • Wnt Proteins / genetics*
  • beta Catenin / genetics*

Substances

  • Biomarkers, Tumor
  • CTNNB1 protein, human
  • Wnt Proteins
  • beta Catenin