Differentially expressed genes in peripheral blood of patients with dermatomyositis complicated by interstitial lung disease or malignant tumors / 中华皮肤科杂志

ABSTRACT

Objective To investigate differentially expressed genes and related signaling pathways in patients with dermatomyositis/clinical amyopathic dermatomyositis (DM/CADM)complicated by interstitial lung disease or malignant tumors.Methods From January 2017 to January 2018,27 DM/CADM patients were enrolled from Department of Dermatology,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,and divided into 3 groups according to the complications10 with interstitial lung disease,8 with malignant tumors,and 9 without interstitial lung disease or malignant tumors.Meanwhile,7 healthy controls were enrolled into this study.High-throughput RNA sequencing was performed to screen differentially expressed genes in peripheral blood in the above 4 groups.Then,these genes were subjected to gene ontology (GO) analysis and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis.Results Compared with the healthy controls,4 820 up-regulated genes and 137 down-regulated genes were identified in DM/CADM patients;GO analysis revealed 49 significantly enriched items in the DM/CADM patients,37 (75.5％) of which were associated with biological processes;KEGG analysis showed that differentially expressed genes were mainly enriched in infection-,tumor-and immune-related pathways in DM/CADM patients.Compared with the patients without interstitial lung disease or malignant tumors,272 up-regulated genes and 158 down-regulated genes were identified in the patients with interstitial lung disease;GO analysis revealed 157 significantly enriched items,114 (72.6％)of which were associated with biological processes;KEGG analysis showed that differentially expressed genes were mainly enriched in bacterial infection-and autoimmune/inflammatory-related pathways in the patients with interstitial lung disease.Compared with the patients without interstitial lung disease or malignant tumors,398 up-regulated genes and 68 down-regulated genes were identified in the patients with malignant tumors;GO analysis revealed 117 significantly enriched items,94 (80.3％) of which were associated with biological processes;KEGG analysis showed that differentially expressed genes were mainly enriched in glycosylation-,metabolism-and tumor-related signaling pathways in the patients with malignant tumors.Conclusions Differences existed in transcriptomes and pathways between the DM/CADM patients and healthy controls,as well as between the patients with interstitial lung disease or malignant tumors and patients without these complications.Bacterial infection-and cytokine/chemokine-related pathways were significantly enriched in the patients with DM/CADM complicated by interstitial lung disease,while those pathways related to glycosylation,protein metabolism,angtigen presentation and cytotoxic effects of natural killer cells were significantly enriched in the patients with DM/CADM complicated by malignant tumors.