代谢组学在子宫内膜异位症研究中的应用进展

Advances in metabolomics research on endometriosis

摘要

子宫内膜异位症(endometriosis，EMS)是一种雌激素依赖性慢性炎症性疾病，在一般人群中的患病率为0.7%~8.6%，在不孕患者中为9.0%~68.0%，是继发性不孕的主要病因之一。EMS的病因复杂，临床表现多样，传统检查难以实现早期无创诊断，诊断延迟最长可达8.6年。得益于检测和生物信息学分析方法的进展，代谢组学不仅被用于发现生物标志物，还能为疾病的发病机制提供系统且灵敏的解析。代谢组学研究揭示了EMS患者糖代谢、脂代谢、氨基酸代谢等代谢异常，为理解疾病机制提供了新视角。文章系统梳理了与EMS病理机制、临床表现、无创诊断、分期分型、临床治疗和危险因素相关的代谢组学最新研究进展，分析现有研究的局限性。强调代谢组学技术进步与多组学整合策略的临床转化价值，为深化EMS发病机制认识、推动早期无创诊断技术发展、发现更有效的治疗靶点提供新思路。

Abstract

Endometriosis(EMS)，a chronic estrogen-dependent inflammatory disorder，affects 0.7%-8.6% of women in the general population and 9.0%-68.0% of those with subfertility，making it a leading cause of secondary infertility. The etiology of EMS is complex，and its clinical manifestations are diverse. EMS remains challenging to diagnose early in a noninvasive manner through conventional methods，with diagnostic delay averaging 8.6 years. Advances in detection technologies and bioinformatics have enabled metabolomics to serve as a powerful tool for biomarker discovery and mechanistic investigation of disease pathogenesis. Metabolomics analyses have identified multiple metabolic abnormalities in EMS patients，including dysregulation of carbohydrate，lipid，and amino acid metabolism，providing novel insights into disease mechanisms. This review comprehensively examines recent metabolomics research related to EMS pathophysiology，clinical features，noninvasive diagnostics，staging，therapeutic strategies，and risk factors，while critically evaluating methodological limitations. We highlight the clinical translational potential of metabolomics technology and multi-omics integration approaches，offering new perspectives to advance mechanistic understanding of EMS，facilitate development of early noninvasive diagnostic methods，and identify novel therapeutic targets.

关键词

代谢组学 / 子宫内膜异位症 / 无创诊断 / 生物标志物

Key words

metabolomics / endometriosis / non-invasive diagnosis / biomarker

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基金资助

国家重点研发计划(2022YFC2702505)