Single nucleotide polymorphisms in telomere length-related genes are associated with hepatocellular carcinoma risk in the Chinese Han population

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 theACYP2gene, rs10936599 (OR = 1.21, 95% CI = 1.02-1.44,p = 0.032) in theTERCgene and rs7708392 (OR = 1.24, 95% CI = 1.00-1.52,p = 0.042) in theTNIP1gene were associated with high HCC risk (OR > 1). In contrast, rs1682111 (OR = 0.77, 95% CI = 0.64-0.94,p = 0.008) in theACYP2gene, rs2320615 (OR = 0.79, 95% CI = 0.64-0.99,p = 0.038) in theNAF1gene, 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 theTERTgene were associated with low HCC risk (OR < 1). Based on genotype frequency distributions, rs6713088, rs843645, rs843711 and rs843706 located in theACYP2gene as well as rs10936599 in theTERCgene 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 theTERTgene increased the risk of HCC (p < 0.05). Conclusion: SNPs inACYP2, TERC, TERTand 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.