Abstract:

Preterm birth (PTB) refers to birth before 37 completed gestational weeks. PTB is the leading cause of neonatal deaths and is associated with various neonatal complications and adult-onset chronic diseases. According to twin and family studies, genetic variants account for about 15% to 35% of the incidence of PTB. However, the molecular epidemiology of PTB is still unclear. By mining the PTB-related researches in the literature database and the disease databases, and combining two filtering methods, 355 PTB-related genes were selected. The enrichment analyses of molecular function revealed that the main functions of PTB-related genes include: receptor ligand activity, cytokine receptor binding, cytokine activity, growth factor activity, etc.; the main pathways from KEGG enrichment were the AGE-RAGE signaling pathway in diabetic complications, Chagas disease, and the IL-17 signaling pathway, the TNF signaling pathway, etc, as well as several immune-related pathways from Reactome enrichment. There were differences in the number of transcripts between PTB-related genes and other genes in the genome (α = 0.1, P = 0.06), but there was no significant difference in GC content and gene lengths. The results suggest that PTB-related genes are mostly in immune-related pathways, and have molecular functions closely related to immunity. Our work provides an important resource for the study of the genetical mechanisms of PTB.

Key words: preterm birth, data mining, enrichment analysis, gene features, transcript number