1. Differential expression and analysis of extrachromosomal circular DNAs as serum biomarkers in pulmonary arterial hypertension
- Author
-
Chun Zhang, Qiang Du, Xiao Zhou, Tianyu Qu, Yingying Liu, Kai Ma, Ziling Shen, Qun Wang, Zaikui Zhang, and Ruifeng Zhang
- Subjects
EccDNA ,Pulmonary arterial hypertension ,High-throughput sequencing ,Differential expression ,Biomarker ,Diseases of the respiratory system ,RC705-779 - Abstract
Abstract Background Extrachromosomal circular DNAs (eccDNAs) have been reported to play a key role in the occurrence and development of various diseases. However, the characterization and role of eccDNAs in pulmonary arterial hypertension (PAH) remain unclear. Methods In the discovery cohort, we first explored eccDNA expression profiles by Circle-sequencing analysis. The candidate eccDNAs were validated by routine polymerase chain reaction (PCR), TOPO-TA cloning and Sanger sequencing. In the validation cohort, 30 patients with PAH and 10 healthy controls were recruited for qPCR amplification to detect the candidate eccDNAs. Datas at the baseline were collected, including clinical background, biochemical variables, echocardiography and hemodynamic factors. Receiver operating characteristic curve was used to investigate the diagnostic effect of the eccDNA. Results We identified a total of 21,741 eccDNAs in plasma samples of 3 IPAH patients and 3 individuals in good health, and the expression frequency, GC content, length distribution, and genome distribution of the eccDNAs were thoroughly characterized and analyzed. In the validation cohort, 687 eccDNAs were differentially expressed in patients with IPAH compared with healthy controls (screening threshold: |FC|≥2 and P
- Published
- 2024
- Full Text
- View/download PDF