The role of ERCC1 and AFP gene polymorphism in hepatocellular carcinoma

The aim of this study was to evaluate the effects of polymorphisms in excision repair cross-complementation group 1 (ERCC1) and alpha-fetoprotein (AFP) genes and their haplotypes on the susceptibility to hepatocellular carcinoma (HCC), and to decipher the association between single-nucleotide polymorphisms (SNPs) and clinicopathologic characteristics of HCC. Peripheral blood DNA was extracted from 206 subjects. SNaPshot technique was used for genotyping 5 SNP sites of the ERCC1 rs735482, rs1046282, rs3212948, and AFP rs737241, rs4024 genotypes. Chi-squared test and logistic regression model were used to analyze the relationship of different genotypes or haplotype and the susceptibility and clinicopathologic characteristics of HCC. The frequency of GG.GA and AA genotypes at the AFP rs737241 site in the case and control groups showed statistically significant differences (P<.05). The risk of HCC in subjects carrying mutated allele A (GA+AA) was increased by 0.543-times (P<.05) compared to that in the subjects with the GG genotype. Significant differences were observed in the linkage disequilibrium between 2 of the five SNPs (P<.05); the frequency of ERCC1 C-C and AFP A-A haplotypes was significantly lower in the case group than in the control group (P<.05). The results of clinicopathologic analysis showed that A allele at the rs737241 locus could increase the expression level of AFP (P=.007), the rs1046282 mutation C allele could increase the AFP expression level (P=.011), rs4024 locus mutation A allele could reduce the risk of vascular invasion (P=.013), rs3212948 locus mutation T allele could reduce the differentiation of liver cancer (P=.022), rs1046282 locus C allele could reduce the DNA load of hepatitis B virus (P=.035), and rs735482 A allele could increase the tumor size in HCC (P=.037). The SNPs in rs737241 for AFP gene may correlate with the occurrence of HCC. The SNPs in ERCC1 and AFP genes may affect the prognosis of HCC, offering reliable information for early prediction of tumor progression and diagnosis of HCC.