Abstract: 【Abstract】 Objective To detect the mRNA expression profile of CD4+ T cells in the peripheral blood of leprosy patients, and to screen and identify genes that may be closely related to the pathogenesis of leprosy. Methods From July 2018 to May 2020, 45 leprosy patients were collected from Hunan Province, and 45 healthy volunteers from Health Examination Center of Changsha Central Hospital. CD4+ T cells were isolated from peripheral blood samples by using magnetic beads, and then RNA was extracted. Solexa sequencing was performed to screen differentially expressed genes between 6 patients and 6 healthy controls, who were randomly selected from the above subjects. Differentially expressed genes were defined as those with a fold change greater than 2 and a P value below 0.05, and then Kyoto encyclopedia of genes and genomes （KEGG） pathway enrichment analysis was performed. Real-time fluorescence-based quantitative PCR was conducted to verify the gene expression. Results Genetic screening revealed 4 831 newly-discovered transcripts with protein-coding potential. Eight differentially expressed genes were screened out between the two groups. Among them, the mRNA expression of CXCL8, PPBP, RPS18 and IL-1β genes was up-regulated, while the mRNA expression of RNH1, RPL39, RPL15 and AMBRA1 genes was down-regulated. Verification results of real-time fluorescence-based quantitative PCR were consistent with the above-mentioned genetic screening results. KEGG analysis showed that the differentially expressed genes between leprosy patients and healthy controls were mainly enriched in mitochondrial autophagy, autophagy-related pathways and human papillomavirus infection pathways. Conclusion Down-regulated mRNA expression of AMBRA1 and RNH1 genes and up-regulated mRNA expression of CXCL8, PPBP and IL-1β genes were identified in patients with leprosy, which may be involved in the pathogenesis of leprosy through the mitochondrial autophagy pathway and chemokine-mediated signaling pathway, respectively.

Key words: Leprosy, CD4-positive T-lymphocytes, Gene expression profiling, Autophagy, Alphapapillomavirus