Abstract
BACKGROUND: Single nucleotide polymorphisms (SNPs) in telomere-related genes are associated with a high risk of hepatocellular carcinoma (HCC). In this study, we investigated the SNPs of telomere length-related genes and their correlation with HCC risk in the Chinese Han population. MATERIALS AND METHODS: A total of 473 HCC patients and 564 healthy volunteers were recruited. Overall, 42 SNPs distributed in telomere-related genes were selected and identified. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated. RESULTS: We found rs6713088 (OR = 1.27, 95% CI = 1.07-1.52, p = 0.007), rs843711 (OR = 1.29, 95% CI = 1.09-1.54, p = 0.004) and rs843706 (OR = 1.30, 95% CI = 1.09-1.55, p = 0.003) in the ACYP2 gene, rs10936599 (OR = 1.21, 95% CI = 1.02-1.44, p = 0.032) in the TERC gene and rs7708392 (OR = 1.24, 95% CI = 1.00-1.52, p = 0.042) in the TNIP1 gene were associated with high HCC risk (OR > 1). In contrast, rs1682111 (OR = 0.77, 95% CI = 0.64-0.94, p = 0.008) in the ACYP2 gene, rs2320615 (OR = 0.79, 95% CI = 0.64-0.99, p = 0.038) in the NAF1 gene, rs10069690 (OR = 0.75, 95% CI = 0.59-0.96, p = 0.021) and rs2242652 (OR = 0.70, 95% CI = 0.55-0.90, p = 0.004) in the TERT gene were associated with low HCC risk (OR < 1). Based on genotype frequency distributions, rs6713088, rs843645, rs843711 and rs843706 located in the ACYP2 gene as well as rs10936599 in the TERC gene were associated with a high incidence of HCC (p < 0.05). In addition, SNPs in these genes could form a linkage imbalance haplotype. Specifically, the haploid 'GC' formed by rs10069690 and rs2242652 within the TERT gene increased the risk of HCC (p < 0.05). CONCLUSION: SNPs in ACYP2, TERC, TERT and other genes were correlated with HCC risk in the Chinese Han population. These data may provide new insights into early diagnosis and screening of HCC.