| Summary: | Ya’nan Zhen,1,2,* Ruixue Xiao,3,* Xing Chen,4 Changjin Yuan,5 Yanlai Sun,6 Jie Li1 1Department of General Surgery, Qianfoshan Hospital, Shandong University, Jinan, 2Department of General Surgery, Affiliated Hospital of Shandong Academy of Medical Sciences, Jinan, 3Department of Pathology, Affiliated Hospital of Shandong Academy of Medical Sciences, Jinan, 4Institute of Basic Medicine, Shandong Academy of Medical Sciences, Jinan, 5Department of Clinical Laboratory, Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Jinan, 6Department of Gastrointestinal Cancer Surgery, Shandong Cancer Hospital Affiliated to Shandong University, Shandong Academy of Medical Sciences, Jinan, People’s Republic of China *These authors contributed equally to this work Purpose: Nijmegen breakage syndrome 1 (NBS1) has a vital role in DNA double-strand break (DSB) repair, functioning as a sensor to identify and repair DNA damage and maintaining genomic stability by participating in the intra-S-phase checkpoint. Polymorphisms of NBS1 have been investigated in multiple cancers with variable results. To our best knowledge, no previous study has focused on the association between NBS1 single-nucleotide polymorphisms (SNPs) and hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC). Patients and methods: Five NBS1 SNPs were selected based on their potential functional impact. A hospital-based cohort, comprising 481 patients with HBV-related HCC, 508 patients with chronic hepatitis B virus infection (CHB), and 581 healthy controls, was recruited for genotyping analysis. Results: After quality control, four SNPs were successfully genotyped (rs10464867, rs1063053, rs1805794, and rs709816), none of which were significantly associated with HCC or CHB compared with those of healthy controls. Similarly, the combined HBV-infected group (including the HCC and CHB groups) exhibited no significant associations with these SNPs compared with healthy controls. In contrast, comparison of the frequency of rs1805794 between patients with CHB and those with HCC identified a significant association (P=2.99E-03, odds ratio =1.31, 95% confidence interval =1.10–1.56). Conclusion: These findings suggest that, as a non-synonymous SNP, the rs1805794 C/G polymorphism may play a role in the progression from CHB to HCC. Keywords: NBS1, polymorphism, hepatitis B virus, Nijmegen breakage syndrome 1
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