The goal of the proposed research is to identify genes that contribute to preterm birth. Approximately 24,000 infants per year, and 80% of infants born before 27 weeks of gestation, develop respiratory distress syndrome (RDS). The mortality rate due to RDS is 5%, and long-term sequelae of RDS include bronchopulmonary dysplasia with resultant growth, health, and neurodevelopmental impairments. Preventing preterm birth is ultimately the most effective strategy to alleviate this major pediatric pulmonary health burden. The collaborators will utilize comparative genomic information to help identify genes involved in human preterm birth. They believe that a variety of factors in human evolution have likely provided selective pressure to initiate parturition at a relatively earlier time in fetal gestation. The same genes responsible for human-specific timing of parturition may play a role in preterm birth. Testing this hypothesis involves identifying genes and regulatory sequences that have evolved rapidly on the lineage leading to modern humans and testing polymorphism within these genes for association with preterm birth.
The project is nearing its final stage, testing rapidly evolving genes for association with preterm birth. The first stage, the computational screen, is complete and nearly nearly 400 rapidly evolving genes were identified. The second stage, genotyping, is more than 90% complete and will be finished within the next few weeks.