RDS and surfactant requirements: are there molecular markers?

Molecular markers for surfactant deficiency were identified in several genes like the surfactant proteins B and C and the ATP-binding cassette A3 (ABCA3)-gene. Newborns who are homozygous for loss of function mutations in these genes develop alveolar proteinosis, a rare and usually fatal disease resembling RDS of preterm infants. Several groups tried to identify genetic polymorphisms in these genes which might be associated with severe RDS in preterm infants. However, none of the reported associations was replicated in large cohorts of preterm infants. More recently, genome-wide arrays identified molecular risk…