Genome-wide association studies have been performed to identify common genetic variants associated with hepatitis B (HB). However, little is known about copy number variations (CNVs) in HB. In this study, we performed a genome-wide CNV analysis between 1830 healthy controls and 1031 patients with HB infection after quality control. Using signal calling by the Axiom Analysis Suite and CNV detection by PennCNV software, we obtained a total of 4494 CNVs across all individuals. The genes with CNVs that were found only in the HB patients were associated with the immune system, such as antigen processing. A gene-level CNV association test revealed statistically significant CNVs in the contactin 6 (CNTN6) gene. Moreover, we also performed gene-level CNV association tests in disease subgroups, including hepatocellular carcinoma patients, liver cirrhosis patients, and HBV carriers, including asymptomatic carriers and patients with HBV-derived chronic hepatitis. Our findings from germline cells suggested that patient-specific CNVs may be inherent genetic risk factors for HB.

已进行全基因组关联研究以确定与乙型肝炎 (HB) 相关的常见遗传变异。然而，关于 HB 中的拷贝数变异 (CNV) 知之甚少。在这项研究中，我们在质量控制后对 1830 名健康对照和 1031 名 HB 感染患者进行了全基因组 CNV 分析。使用 Axiom Analysis Suite 的信号调用和 PennCNV 软件的 CNV 检测，我们在所有个体中总共获得了 4494 个 CNV。仅在 HB 患者中发现的带有 CNV 的基因与免疫系统有关，例如抗原加工。基因水平的 CNV 关联测试揭示了 contactin 6 (CNTN6) 基因中具有统计学意义的 CNV。此外，我们还在疾病亚组中进行了基因水平的 CNV 关联测试，包括肝细胞癌患者，肝硬化患者和HBV携带者，包括无症状携带者和HBV衍生慢性肝炎患者。我们对生殖细胞的研究结果表明，患者特异性 CNV 可能是 HB 的固有遗传风险因素。