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健康个体中全基因组游离DNA片段化谱与血液生化和血液学参数的关联。

Associations of genome-wide cell-free DNA fragmentation profiles with blood biochemical and hematological parameters in healthy individuals.

作者信息

Bao Hua, Chen Xiaoxi, Xiao Qian, Yang Shanshan, Wu Shuyu, Wang Xiaonan, Wu Xue, Ding Kefeng, Shao Yang

机构信息

Geneseeq Research Institute, Nanjing Geneseeq Technology Inc., Nanjing, Jiangsu, China.

Department of Colorectal Surgery and Oncology, Key Laboratory of Cancer Prevention and Intervention, Ministry of Education, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.

出版信息

Genomics. 2022 Nov;114(6):110504. doi: 10.1016/j.ygeno.2022.110504. Epub 2022 Oct 17.

Abstract

Cell-free DNA (cfDNA), as a non-invasive approach, has been introduced in a wide range of applications, including cancer diagnosis/ monitoring, prenatal testing, and transplantation monitoring. Yet, studies of cfDNA fragmentomics in physiological conditions are lacking. In this study, we aim to explore the correlation of fragmentation patterns of cfDNA with blood biochemical and hematological parameters in healthy individuals. We addressed the impact of physiological variables and abnormal blood biochemical and hematological parameters on cfDNA fragment size distribution. We also figured and validated that hematological inflammation markers, including leukocyte, lymphocyte, neutrophil, and platelet distribution width as well as aspartate transaminase levels were significantly correlated with the genome-wide cfDNA fragmentation pattern. Our findings suggest that cfDNA fragmentation profiles were associated with physiological parameters related to cardiovascular risk factors, inflammatory response and hepatocyte injury, which may provide insights for further research on the potential role of cfDNA fragmentation in diagnosis and monitor of several disease.

摘要

游离DNA(cfDNA)作为一种非侵入性方法,已被广泛应用于多种领域,包括癌症诊断/监测、产前检测和移植监测。然而,目前缺乏关于生理条件下cfDNA片段组学的研究。在本研究中,我们旨在探讨健康个体中cfDNA片段化模式与血液生化和血液学参数之间的相关性。我们研究了生理变量以及异常血液生化和血液学参数对cfDNA片段大小分布的影响。我们还发现并验证了血液学炎症标志物,包括白细胞、淋巴细胞、中性粒细胞、血小板分布宽度以及天冬氨酸转氨酶水平,与全基因组cfDNA片段化模式显著相关。我们的研究结果表明,cfDNA片段化谱与心血管危险因素、炎症反应和肝细胞损伤相关的生理参数有关,这可能为进一步研究cfDNA片段化在多种疾病诊断和监测中的潜在作用提供思路。

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