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Updated: Feb 15, 2026

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cfGWAS揭示了无细胞DNA末端基因的遗传基础

Huanhuan Zhu^1,2, Yan Zhang^1,2, Linxuan Li^2,3

¹State Key Laboratory of Genome and Multi-omics Technologies, BGI Research, Shenzhen, China.

Nature communications

|February 13, 2026

概括

这项研究引入了cfGWAS,一种全基因组的方法,以揭示无细胞DNA (cfDNA) 生物学的遗传基础. 它确定了新的基因和因果关系,有望在液体活检和疾病治疗方面取得进展.

科学领域:

基因组学就是基因组学.
分子生物学分子生物学
生物化学生物化学

背景情况:

无细胞DNA (cfDNA) 具有用于产前检测和癌症检测的诊断潜力.
控制cfDNA的生物机制尚未得到充分理解.
了解cfDNA生物学对于推进液体活检技术至关重要.

研究的目的:

通过全基因组关联研究 (GWAS) 探索cfDNA末端动机频率的遗传基础.
识别影响cfDNA特征的新基因和生物途径.
建立cfDNA特征和细胞组件之间的因果关系.

主要方法:

在28,016名孕妇中对cfDNA末端动机频率进行了全基因组关联研究 (GWAS).
使用淘汰赛小鼠和细胞系进行了独立的GWAS验证和实验验证.
分析了cfDNA特征和白细胞群,特别是中性粒细胞之间的因果关系.

主要成果:

确定了与cfDNA末端动机频率相关的15个显著位置,包括已知的基因 (DFFB,DNASE1L3) 和新型候选基因 (PANX1,DNASE1L1).
通过独立的GWAS和实验验证的证实结果.
在白细胞,特别是中性粒细胞和cfDNA特征之间建立了强烈的因果关系.

结论:

介绍了cfGWAS,这是对cfDNA生物学全基因组调查的新方法.
揭示了cfDNA特征的遗传基础,并确定了关键基因和细胞参与者.
这些发现有可能彻底改变液体活检,并为疾病的新治疗策略提供信息.

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