细胞游离DNA片段组学用于慢性肝病诊断的研究进展

肝脏 ›› 2022, Vol. 27 ›› Issue (8): 842-843.

细胞游离DNA片段组学用于慢性肝病诊断的研究进展

曾伟兰, 李璟, 汪艳

510515 广州广东省肝纤维化工程技术研究中心,南方医科大学中心实验室,南方医科大学药学院

收稿日期:2022-07-25 出版日期:2022-08-31 发布日期:2022-09-30
通讯作者: 汪艳,Email: yanwang@smu.edu.cn
基金资助:
国家自然科学基金项目(82070589);广东省自然科学基金项目(2022A1515010218);广州市科技计划项目(2022-01-01-11-3028-0062)

Received:2022-07-25 Online:2022-08-31 Published:2022-09-30

摘要/Abstract

摘要： 细胞游离DNA(cfDNA)通常是指由组织细胞释放入外周血的没有被包裹的无细胞DNA。cfDNA作为一种理论上可以反映组织学损伤及其原位机制信息的无创指标,吸引了大量研究团队对其生物学功能特征和应用潜力进行探索。关于cfDNA片段分布特征的分析研究被称为cfDNA片段组学。cfDNA分子序列特征和片段组学特征在慢性肝病诊疗领域,包括肝肿瘤、肝移植以及炎症性肝损伤等有不同程度的研究进展。进一步提高分析技术流程的细节标准化以及临床队列的设计质量,将有助于加速推进cfDNA应用研究的在慢性肝病诊疗领域的临床转化。

关键词: 细胞游离DNA, 序列分析, 片段组学, 慢性肝病, 诊断标志物

曾伟兰, 李璟, 汪艳. 细胞游离DNA片段组学用于慢性肝病诊断的研究进展[J]. 肝脏, 2022, 27(8): 842-843.

参考文献

[1] van der Vaart M, Pretorius PJ. Circulating DNA. Its origin and fluctuation. Ann N Y Acad Sci,2008,1137:18-26.
[2] Han DSC, Ni M, Chan RWY, et al. The Biology of Cell-free DNA Fragmentation and the Roles of DNASE1, DNASE1L3, and DFFB. Am J Hum Genet,2020,106:202-214.
[3] Leon SA, Shapiro B, Sklaroff DM, et al. Free DNA in the serum of cancer patients and the effect of therapy. Cancer Res,1977,37:646-550.
[4] Chan KC, Jiang P, Sun K, et al. Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends. Proc Natl Acad Sci U S A,2016,113:E8159-E8168.
[5] Yu SCY, Jiang P, Peng W, et al. Single-molecule sequencing reveals a large population of long cell-free DNA molecules in maternal plasma. Proc Natl Acad Sci U S A, 2021,118.
[6] Jiang P, Xie T, Ding SC, et al. Detection and characterization of jagged ends of double-stranded DNA in plasma. Genome Res,2020,30:1144-1153.
[7] Ding SC, Lo YMD. Cell-Free DNA Fragmentomics in Liquid Biopsy. Diagnostics (Basel), 2022,12:978..
[8] Lyu X, Tsui YM, Ho DW, et al. Liquid Biopsy Using Cell-Free or Circulating Tumor DNA in the Management of Hepatocellular Carcinoma. Cell Mol Gastroenterol Hepatol, 2022,13:1611-1624.
[9] Jiang P, Sun K, Tong YK, et al. Preferred end coordinates and somatic variants as signatures of circulating tumor DNA associated with hepatocellular carcinoma. Proc Natl Acad Sci U S A,2018,115:E10925-E10933.
[10] Zhang X, Wang Z, Tang W, et al. Ultrasensitive and affordable assay for early detection of primary liver cancer using plasma cell-free DNA fragmentomics. Hepatology, 2022,76:317-329.
[11] Levitsky J, Kandpal M, Guo K, et al. Donor-derived cell-free DNA levels predict graft injury in liver transplant recipients. Am J Transplant,2022,22:532-540.
[12] Fernandez-Galan E, Badenas C, Fondevila C, et al. Monitoring of Donor-Derived Cell-Free DNA by Short Tandem Repeats: Concentration of Total Cell-Free DNA and Fragment Size for Acute Rejection Risk Assessment in Liver Transplantation. Liver Transpl, 2022,28:257-268.
[13] Baumann AK, Beck J, Kirchner T, et al. Elevated fractional donor-derived cell-free DNA during subclinical graft injury after liver transplantation. Liver Transpl,2022.
[14] Karlas T, Weise L, Kuhn S, et al. Correlation of cell-free DNA plasma concentration with severity of non-alcoholic fatty liver disease. J Transl Med 2017;15:106.
[15] Chrysavgis L, Papatheodoridi A, Cholongitas E, et al. Significance of Circulating Cell-Free DNA Species in Non-Alcoholic Fatty Liver Disease. Int J Mol Sci 2021;22.
[16] Blasi A, Patel VC, Adelmeijer J, et al. Plasma levels of circulating DNA are associated with outcome, but not with activation of coagulation in decompensated cirrhosis and ACLF. JHEP Rep 2019;1:179-187.
[17] Laurent D, Semple F, Starkey Lewis PJ, et al. Absolute measurement of the tissue origins of cell-free DNA in the healthy state and following paracetamol overdose. BMC Med Genomics 2020;13:60.
[18] Sadeh R, Sharkia I, Fialkoff G, et al. ChIP-seq of plasma cell-free nucleosomes identifies gene expression programs of the cells of origin. Nat Biotechnol 2021;39:586-598.
[19] Corcoran RB, Chabner BA. Application of Cell-free DNA Analysis to Cancer Treatment. N Engl J Med 2018;379:1754-1765.
[20] Martignano F. Cell-Free DNA: An Overview of Sample Types and Isolation Procedures. Methods Mol Biol 2019;1909:13-27.