Genes and environment in common neonatal lung disease

Abstract

Respiratory distress syndrome (RDS) and bronchopulmonary dysplasia (BPD) are common, serious lung diseases in preterm infants. Polymorphism of the genes involved in basic lung function and alveolar stability, lung differentiation and pulmonary host defense may influence the risk. Natural selection has refined the genes responsible for cardiopulmonary adaptation and resistance against pneumonia in term and near-term infants. Before the era of antibiotics, however, virtually all very preterm infants died of asphyxia, respiratory failure or infections. Today, the degree of prematurity plays a dominant role in susceptibility to serious lung disease. In addition, genetic polymorphism and constitution modulate the risk of RDS and BPD that have different, partly overlapping predisposition. According to twin studies, the genetic impact on the risk of RDS and BPD among preterm and very preterm infants is 35-65%. Individual disease genes generally have low penetrance. Large-scale genetic studies are required as part of neonatal and perinatal research in order to learn about the risk factors and to investigate pharmacogenetics. The aim in the future is to individualize therapies.