【摘要】 目的 分析真性红细胞增多症患者的蛋白质组学，寻找真性红细胞增多症特异性生物标志物。方法 选取2022年1—12月于新乡市第一人民医院就诊的40例真性红细胞增多症患者和40例健康志愿者，分别记作疾病组和健康组。通过高效液相色谱-质谱分析技术筛选出两组受试者血浆表达差异有统计学意义的蛋白；采用Blast2GO数据库对筛选出的差异表达蛋白进行基因本体(GO)和京都基因与基因组百科全书(KEGG)富集分析；采用STRING数据库对差异表达蛋白进行蛋白互作分析。结果 健康组和疾病组受试者血浆中共筛选出34种表达差异有统计学意义的蛋白(差异倍数>1.2,P<0.05),与健康组相比较，疾病组患者血浆中有13种蛋白表达上调，21种蛋白表达下调；GO功能富集分析结果显示，两组患者差异表达蛋白主要位于细胞质内，通过干预抗原结合、肽结合、糖胺聚糖结合等分子功能(MF),参与中性粒细胞激活、免疫反应、蛋白级联激活、氧化应激等生物过程(BP);KEGG通路富集分析显示，两组患者差异表达蛋白主要参与了造血细胞谱系、Janus激酶(JAK)/信号转导和转录激活子(STAT)信号通路、细胞黏附分子等代谢途径和信号转导通路；STRING在线数据库分析结果显示，核糖体蛋白S27a(RPS27A)、血红蛋白(Hb)和JAK蛋白与其他蛋白的相关度较高。结论 真性红细胞增多症患者差异表达蛋白主要富集于造血细胞谱系、JAK/STAT信号通路、细胞黏附分子等代谢途径和信号转导通路，参与真性红细胞增多症的发生发展，RPS27A、Hb和JAK蛋白可能是诊断真性红细胞增多症的潜在蛋白标志物。更多还原

【Abstract】 Objective To analyze the proteomics of patients with polycythemia vera and search for specific biomarkers of polycythemia vera.Methods A total of 40 cases of polycythemia vera patients and 40 healthy volunteers who visited the First People’s Hospital of Xinxiang from January to December 2022 were selected and classified as disease group and healthy group, respectively. The proteins with statistically significant differences in plasma expression between the two groups were identified by high performance liquid chromatography-mass spectrometry. The Blast2GO database was used to enrich and analyze the screened differentially expressed proteins in gene ontology(GO) and Kyoto encyclopedia of genes and genome(KEGG). Protein interaction analysis of differentially expressed proteins was analyzed using STRING database.Results A total of 34 differentially expressed proteins were screened from the plasma of subjects in the healthy group and the disease group(multiple of difference>1.2, P<0.05). Compared with the healthy group, 13 proteins in the plasma of patients in the disease group were up-regulated and 21 proteins were down-regulated. GO functional enrichment analysis showed that the differentially expressed proteins of the two groups were mainly located in the cytoplasm, and participated in neutrophilic activation, immune response, protein cascade activation, oxidative stress and other biological processes(BP) by interfering with the molecular functions(MF) of antigen binding, peptide binding, glycosaminoglycan binding, etc. KEGG pathway enrichment analysis showed that the differentially expressed proteins in the two groups were mainly involved in hematopoietic cell lineage, Janus kinase(JAK)/signal transducer and activator of transcription(STAT) signaling pathway, cell adhesion molecules and other metabolic pathways and signal transduction pathways. The results of STRING online database analysis showed that ribosomal protein S27a(RPS27A), hemoglobin(Hb) and JAK proteins had high correlation with other proteins.Conclusion The differentially expressed proteins in polycythemia vera patients are mainly enriched in hematopoietic cell lineage, JAK/STAT signaling pathway, cell adhesion molecules and other metabolic pathways and signal transduction pathways, which are involved in the occurrence and development of polycythemia vera. RPS27A, Hb and JAK proteins may be potential protein markers for the diagnosis of polycythemia vera.更多还原