EB病毒相关疾病的血浆DNA的甲基化分析

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Methylation analysis of plasma DNA informs etiologies of Epstein-Barr virus-associated diseases

W. K. Jacky Lam, Peiyong Jiang, K. C. Allen Chan, Wenlei Peng, Huimin Shang, Macy M. S. Heung, Suk Hang Cheng, Haiqiang Zhang, O. Y. Olivia Tse, Radha Raghupathy, Brigette B. Y. Ma, Edwin P. Hui, Anthony T. C. Chan, John K. S. Woo, Rossa W. K. Chiu & Y. M. Dennis Lo


Nature Communicationsvolume 10, Article number: 3256 (2019)


Abstract
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.

https://www.nature.com/articles/s41467-019-11226-5