Abstract: Objective To identify differential proteins in serum between moyamoya disease (MMD) patients and healthy controls using Olink targeted proteomics,elucidate their potential roles in disease pathogenesis and progression,and evaluate their value as prognostic biomarkers. Methods We enrolled 43 MMD patients and 43 non-MMD controls admitted to Fuzhou First People's Hospital from January 2023 to May 2025 serum samples were collected,and clinical parameters (blood pressure,blood glucose,blood lipids,oxygen saturation,heart rate) were recorded.Differential proteins were detected using Olink targeted proteomics panels.GO and KEGG enrichment analyses were performed to identify critical signaling pathways. Results MMD patients exhibited significantly elevated blood pressure,blood glucose,blood lipids,and oxygen saturation compared to controls (P<0.05).We identified 30 differentially expressed proteins,with ROBO2 showing the most pronounced upregulation in MMD.Enrichment analysis revealed significant involvement of these proteins in “protein binding,” “signal transduction,” and “cytokine-receptor interaction” pathways.Random forest modeling confirmed that ROBO2 expression level provides optimal predictive power for MMD diagnosis and adverse prognosis. Conclusion The “protein binding–signal transduction–cytokine receptor interaction” network is significantly activated in MMD patient serum.ROBO2 demonstrates marked upregulation and represents a potential biomarker for early diagnosis and prognostic assessment of MMD.

Key words: Moyamoya disease, Olink proteomics, ROBO2, Bioinformatics analysis

摘要： 目的 利用Olink 靶向蛋白质组学技术,筛选烟雾病(moyamoya disease,MMD)患者与非烟雾病对照者血清中的差异蛋白,阐明其在疾病发生与进展中的潜在功能,并评估其作为预后生物标志物的价值。方法 纳入2023年1月~2025年5月于抚州市第一人民医院就诊的43例MMD患者及43例健康对照者,采集血清并记录血压、血糖、血脂、血氧饱和度及心率等临床指标。采用Olink靶向蛋白质组学检测差异蛋白,并通过GO/KEGG富集分析确定关键信号通路。结果 MMD组的血压、血糖、血脂及血氧饱和度均高于对照组(P＜0.05)。共鉴定出30种差异蛋白,其中ROBO2上调最为显著。富集分析显示,差异蛋白主要富集于“蛋白质结合”“信号转导”及“细胞因子-受体相互作用”等通路。随机森林模型进一步证实,ROBO2表达水平对MMD的诊断及不良预后具有最佳预测效能。结论 MMD患者血清中“蛋白质结合-信号转导-细胞因子受体相互作用”网络显著激活,ROBO2显著上调,可作为MMD早期诊断及预后评估的潜在生物标志物。

关键词: 烟雾病, Olink蛋白质组学, ROBO2, 生物信息学分析