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多组学技术在代谢相关脂肪性肝病中的潜在应用： 从分子机制到血清学标志物
DOI: 10.12449/JCH250904
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作者贡献声明：刘珍妮负责查找文献，撰写文稿；龙琪琛、胡敏负责确定写作思路，指导文章撰写及最终定稿。
Potential application of multi-omics techniques in metabolic dysfunction-associated fatty liver disease： From molecular mechanisms to serological markers
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摘要: 代谢相关脂肪性肝病（MAFLD），即原非酒精性脂肪性肝病（NAFLD），已成为全球范围内常见的慢性肝病。目前，临床诊断肝病的方法存在侵入性操作、敏感性不足、诊断准确性较低等局限，给MAFLD的早期识别和精准治疗带来挑战。近年来，多组学技术的快速发展为MAFLD的精准诊疗提供了新思路。基因组学、代谢组学与脂质组学、微生物组学及蛋白质组学技术不仅在MAFLD发病机制方面提供了新的见解，还为疾病的预测、诊断和分期鉴定出新型生物标志物。同时，基于多组学数据构建的诊断模型展现出良好的临床效能，为开发无创、精准的MAFLD诊断工具奠定重要基础，有望实现传统诊疗向精准医学的转变。尽管多组学标志物在MAFLD早期诊断中的临床应用价值已得到一定认可，但在临床转化方面仍面临检测标准化、个体异质性、成本效益等挑战。Abstract: Metabolic dysfunction-associated fatty liver disease （MAFLD）， formerly known as nonalcoholic fatty liver disease （NAFLD）， has become a common chronic liver disease worldwide. Currently， the clinical methods for diagnosing liver diseases have limitations such as invasive procedures， insufficient sensitivity， and low diagnostic accuracy， posing challenges to the early identification and precise treatment of MAFLD. In recent years， the rapid development of multi-omics techniques has provided new ideas for the precise diagnosis and treatment of MAFLD. Genomics， metabolomics， lipidomics， microbiomics， and proteomics techniques not only offer new insights into the pathogenesis of MAFLD， but also identify novel biomarkers for disease prediction， diagnosis， and staging. Meanwhile， diagnostic models constructed based on multi-omics data have shown good clinical efficacy and laid an important foundation for the development of noninvasive precise diagnostic tools for MAFLD， and therefore， it is expected to realize the transition from traditional diagnosis and treatment to precision medicine. Although the clinical application value of multi-omics markers in the early diagnosis of MAFLD has been recognized to some extent， there are still challenges in clinical translation， such as the standardization of detection， individual heterogeneity， and cost-effectiveness.
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