Shaping the future of precision medicine: plasma proteomics to uncover insights in thrombosis

Advances in various proteomics technologies, especially high-throughput and reproducibility, have enabled the systematic exploration of the circulating thrombosis proteome. This includes dissecting biological systems and pathways imperative to thrombosis, such as platelet activation, coagulation cascade, complement system, and endothelial cells. These insights strengthen our understanding of the cause and effect of thrombosis and improve precision medicine by identifying better biomarkers and biomarker panels, which may aid clinicians in decision-making in venous thromboembolism (VTE) and other thrombotic patients. This progress has the potential to reduce thrombosis-related morbidity and mortality, ultimately improving patient quality of life. This review highlights recent advances and applications of mass spectrometry and affinity-based proteomics in thrombosis over the past three years (2022–2024), focusing on the thrombotic proteome signature related to VTE. Plasma proteomics, predominantly driven by mass spectrometry and affinity-based proteomics, has shown promise in identifying novel disease biomarkers and pathways. With the recent advances in the field, proteomics holds the potential to revolutionize precision medicine. As thrombosis is an intravascular disease, analysis of the blood proteome can capture environmental, genetic, and epigenetic contributors to risk variation in thrombosis, revealing novel protein biomarkers for diagnosis and risk prediction and new biological pathways.

各类蛋白质组学（proteomics）技术的进步，尤其是高通量（high-throughput）与重现性（reproducibility）层面的突破，为系统性探究循环血栓蛋白质组（circulating thrombosis proteome）提供了坚实基础。此项研究范畴涵盖解析血栓形成相关的关键生物学系统与通路，例如血小板活化（platelet activation）、凝血级联反应（coagulation cascade）、补体系统（complement system）及内皮细胞（endothelial cells）。
此类研究发现深化了我们对血栓形成因果机制的认知，并通过发掘更优质的生物标志物（biomarkers）及生物标志物组合（biomarker panels）助力精准医学（precision medicine）发展，可辅助临床医师为静脉血栓栓塞症（venous thromboembolism, VTE）及其他血栓性疾病患者制定诊疗决策。该进展有望降低血栓相关疾病的发病率与死亡率，最终改善患者的生活质量。
本综述聚焦2022至2024年近三年间，质谱法（mass spectrometry）与基于亲和层析的蛋白质组学（affinity-based proteomics）在血栓研究领域的最新进展与应用，重点探讨与VTE相关的血栓蛋白质组特征。以质谱法及基于亲和层析的蛋白质组学为主要技术驱动的血浆蛋白质组学（plasma proteomics），在发掘新型疾病生物标志物与通路方面已展现出良好应用前景。随着该领域的新近突破，蛋白质组学有望引领精准医学的革命性变革。
由于血栓属于血管内疾病，对血液蛋白质组的分析能够捕捉血栓风险变异的环境、遗传及表观遗传（epigenetic）诱因，进而揭示可用于诊断与风险预测的新型蛋白质生物标志物，以及全新的生物学通路。