Whole-transcriptome and proteome analysis of active generalized vitiligo

To gain more insights into the transcriptomic landscape and molecular mechanism of vitiligo. Methods: Data-independent acquisition mass spectrometry (DIA-MS) and whole-transcriptome sequencing (WTS) were performed on whole blood samples (WBS) from 3 patients with active generalized vitiligo (P-AGV) and from 3 healthy individuals (HIs). The gene-regulatory circuits, differentially expressed proteins (DEPs) and genes (DEGs), including mRNAs, miRNAs, lncRNAs and circRNAs, and enrichment analyses were comprehensively evaluated in P-AGV and HIs. The sequencing results were verified by quantitative real-time PCR (qRT-PCR) on 10 pairs of WBS from P-AGV and HIs. Results: A total of 15 proteins and 669 genes were differentially expressed in P-AGV compared to HIs. Analysis of functional pathways showed that the DEPs and DEGs were only enriched in anegative regulation of muscle contraction. Bioinformatics analysis showed that hsa-miR-3613-3p, hsa-miR-511-5p and hsa-miR-6818-3p were involved in regulating the hub genes. The vital co-expression (lncRNA-mRNA, circRNA-mRNA) and rival endogenous RNA interaction axis demonstrated the potential roles of lncRNAs and circRNAs. Expression levels of 10 hub genes (apart from FCGR3B) were also confirmed by qRT-PCR analysis of 10 pairs of WBS. Conclusions: This study provides valuable evidence for understanding the regulatory mechanisms of vitiligo and may contribute to the development of diagnostic and therapeutic targets.