Bronchopulmonary dysplasia (BPD) is a common chronic respiratory disease
in preterm infants caused by multifactorial etiology. Genetic factors are
involved in the occurrence of BPD, but studies have found that candidate genes
have poor reproducibility and are influenced by ethnic heterogeneity;
therefore, more exploration is still needed. We performed whole-exon sequencing
in 34 preterm infants with BPD and 32 non-BPD control neonates. The data were
analyzed and interpreted by Fisher difference comparison, PLINK and eQTL
association analysis, KEGG and GO enrichment analysis, STRING tool, Cytoscape
software, ProtParam tool, HOPE online software, and GEOR2 analysis on NCBI GEO
dataset. BPD has a highly heterogeneity in different populations, and we found
35 genes overlapped with previous whole-exon sequencing studies, such as APOB
gene. Arterial and epithelial cell development and energy metabolism pathways
affect BPD. In this study, 24 key genes were identified, and BIVM rs3825519
mutation leads to prolonged assisted ventilation in patients with BPD. A novel
DDAH1 mutation site (NM_012137: exon1: c.89 T > G: p.L30R) was found in 9 BPD patients.Conclusion: BIVM gene rs3825519 mutation may play a role in the pathogenesis of BPD by affecting cilia movement, and the DDAH1 and APOB genes mutations may have a pathogenic role in BPD.What is Known:•Genetic factors are involved in the occurrence of bronchopulmonary dysplasia.•The candidate genes have poor reproducibility and are influenced by ethnic heterogeneity, therefore, more exploration is still needed.What is New:•We identified the role of susceptible SNPs in BPD in Shenzhen, China, and identified 24 key genes that influence the pathogenesis of BPD, and also found 35 genes overlapped with previous whole exon sequencing studies, such as APOB gene.•We found that BIVM and DDAH1 genes may play a pathogenic role in the pathogenesis of BPD.Supplementary InformationThe online version contains supplementary material available at 10.1007/s00431-022-04779-z.