Integrative Analysis of DNA Methylation and Gene Expression in the Pathogenesis of Endobronchial Tuberculosis.

The aim of this study is to identify novel DNA methylation sites significant for endobronchial tuberculosis (EBTB) and comprehensively understand their underlying pathological mechanisms. The following two steps are performed 1) genome-wide DNA methylation and mRNA expression profiling in endobronchial internal membrane tissue from EBTB patients and healthy controls and 2) a correlation analysis and causal inference tests (CITs) for DNA methylation and mRNA expression data. A total of 1258 DNA methylation regions (DMRs) are found associated with EBTB. The identified DMRs have regulatory effects on mRNA expression. CITs identified four DNA methylation–mRNA–EBTB regulatory chains (ATP6V1B1, KCNAB2, LRP5, and FCER1G). In conclusion, integrated DNA methylation and transcriptome analyses could provide valuable resources for epigenetics studies in EBTB. In addition, the correlation analysis highlighted the importance of a series of regulatory chains in EBTB pathogenesis. The results enhanced our understanding of the important role of DNA methylation in the pathology of EBTB.