血浆 DNA 的甲基化分析为 Epstein-Barr 病毒相关疾病的病因提供了信息。
Methylation analysis of plasma DNA informs etiologies of Epstein-Barr virus-associated diseases.
机构信息
Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China.
Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR, China.
出版信息
Nat Commun. 2019 Jul 22;10(1):3256. doi: 10.1038/s41467-019-11226-5.
Epstein-Barr virus (EBV) is associated with a number of diseases, including malignancies. Currently, it is not known whether patients with different EBV-associated diseases have different methylation profiles of circulating EBV DNA. Through whole-genome methylation analysis of plasma samples from patients with nasopharyngeal carcinoma (NPC), EBV-associated lymphoma and infectious mononucleosis, we demonstrate that EBV DNA methylation profiles exhibit a disease-associated pattern. This observation implies a significant potential for the development of methylation analysis of plasma EBV DNA for NPC diagnostics. We further analyse the plasma EBV DNA methylome of NPC and non-NPC subjects from a prospective screening cohort. Plasma EBV DNA fragments demonstrate differential methylation patterns between NPC and non-NPC subjects. Combining such differential methylation patterns with the fractional concentration (count) and size of plasma EBV DNA, population screening of NPC is performed with an improved positive predictive value of 35.1%, compared to a count- and size-based only protocol.
EB 病毒（EBV）与多种疾病相关，包括恶性肿瘤。目前尚不清楚患有不同 EBV 相关疾病的患者是否具有不同的循环 EBV DNA 甲基化谱。通过对鼻咽癌（NPC）、EBV 相关淋巴瘤和传染性单核细胞增多症患者的血浆样本进行全基因组甲基化分析，我们证明 EBV DNA 甲基化谱表现出与疾病相关的模式。这一观察结果表明，开发基于血浆 EBV DNA 甲基化分析的 NPC 诊断方法具有重要的潜力。我们进一步分析了前瞻性筛查队列中 NPC 和非 NPC 患者的血浆 EBV DNA 甲基组。NPC 和非 NPC 患者的血浆 EBV DNA 片段显示出不同的甲基化模式。将这种差异甲基化模式与血浆 EBV DNA 的分数浓度（计数）和大小相结合，对 NPC 进行人群筛查，阳性预测值提高到 35.1%，而仅基于计数和大小的方案的阳性预测值为 20.6%。
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