A non-synonymous polymorphism in NBSI is associated with progression from chronic hepatitis B virus infection to hepatocellular carcinoma in a chinese population

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 multipl...

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Bibliographic Details
Published inOncoTargets and therapy Vol. 11; p. 563
Main Authors Zhen, Ya'nan, Xiao, Ruixue, Chen, Xing, Yuan, Changjin, Sun, Yanlai, Li, Jie
Format Journal Article
LanguageEnglish
Published Dove Medical Press Limited 01.01.2018
Subjects
Analysis
Cancer
Cancer research
Carcinoma
Development and progression
DNA
DNA damage
EDTA
Genetic aspects
Genetic polymorphisms
Health aspects
Hepatitis B
Hepatitis B virus
Hepatocellular carcinoma
Ionizing radiation
Sensors
Single nucleotide polymorphisms
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Summary: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
ISSN:1178-6930
1178-6930
DOI:10.2147/OTT.S153538