来自EA和AA患者MM及其前体cfDNA的5hmC全基因组分析使用5hmC- seal和下一代测序技术对患者血浆cfDNA样本中的全基因组5hmC进行分析。基因体的5hmC-Seal数据是所有样本中MM及其前体(MGUS + SMM，即MGUS和SMM结合)差异分析的主要目标，使用多变量logistic回归模型，控制年龄、性别和自我报告的种族/群体。此外，我们对仅有MM的EA和AA患者进行了差异分析。A根据GENCODE注释(hg19)， cfDNA中捕获的5hmC-Seal reads相对于侧翼区域在基因体中更丰富，而在启动子区域则较少。TSS:转录起始位点;TES:转录端位点。与其他组织类型相比，捕获的5hmC-Seal reads在来自B细胞和t细胞的组蛋白修饰标记增强子(H3K4me1和H3K27ac)中富集。H3K4me1和H3K27ac的注释来自表观基因组学项目路线图。标准误差用误差条表示。 C The heat map shows the top 63 differential gene bodies between MM and its precursors in the combined EA and AA patients. D Shown are the enriched KEGG pathways among the top 500 differential gene bodies between MM and its precursors in the combined EA and AA samples. The X-axis represents the ratio between the number of differential genes and the total genes in a given pathway. E The Co-expression Network Enrichment Analysis was performed for differential gene bodies between EA and AA to provide further biological insights. Specifically, three modules (Module 1: 254 genes; Module 2: 156 genes; and Module 3: 75 genes) are shown from the modular gene co-expression analysis using the top 500 differential gene bodies between AA and EA patients with MM as the input. NES: normalized enrichment score. F–H Shown are the protein–protein interaction networks constructed for the co-expression and/or interaction modules identified from differential gene bodies between EA and AA patients with MM. Credit:血液学与肿瘤学杂志(2022)。DOI: 10.1186 / s13045 - 022 - 01327 - y
