Abstract

Background: Dysregulation of gene expression plays an important role in the development and progression of COPD.
Aims and Objectives: To determine gene expression changes that contribute to the development of COPD among smokers using high-throughput RNA sequencing in the peripheral blood of COPD patients.
Materials and methods: Total RNA sequencing was investigated by prospectively collecting lung function test results and whole blood samples from smokers who visited the outpatient department of respiratory medicine at three hospitals since 2020.
Results: Of the 283 smokers enrolled, 56.5% showed airflow limitation and male predominance (80%). The average smoking amount was 25.8 pack-years. As a result of profiling genes differentially expressed according to the spirometer grade, four genes (ENSG00000258631, ENSG00000258722, ENSG00000224017, ENSG00000286880) were significantly identified at the 5% significance level after FDR adjustment. Three of the genes  found were long non-coding RNAs (lncRNAs) that were upregulated with increasing spirometry grade. Among them, the promoter and enhancer of ENSG00000258631 have binding sites for transcription factors GATA2, NR2F2, and CREB1, which have been reported to be related to COPD.
Conclusion: This study confirmed gene expression differences in non-coding RNA in COPD patients according to the degree of airflow limitation through RNA-Seq transcriptome analysis. These results may provide valuable predictive resources for future COPD research.