Molecular Genetics of Predisposition to Respiratory Disorders in Newborn

Abstract

During the perinatal period, preterm neonates face severe complications. These include disorders of the lung such as respiratory distress syndrome and chronic lung disease. The risk of complications depends on maturity, but data also suggest the existence of an inherited susceptibility. This may be due to genetic polymorphisms and inherited mutations. Reported associations between lung disease and polymorphisms of genes encoding proteins that regulate inflammation, vasoregulation and lung development helped the identification of specific genetic elements in perinatal respiratory disorders. In a minority of newborns inherited mutations such as those of surfactant protein encoding gene may be responsible for the development of perinatal lung disorders. Further studies are required to assess those genetic patterns that can be used for the identification of patients at risk. Key concepts: Perinatal respiratory disorders affect primarily preterm infants. These include idiopathic respiratory disorder, bronchopulmonary dysplasia. Inherited genetic polymorphisms may be a risk factor of these complications. Genetic polymorphisms with an impact on immune response, vasoregulation and lung development are extensively tested. Several associations between polymorphisms and disease were reported. Other data support the contribution of genetics to other perinatal complications that are risk factors for respiratory disorders. Rare mutations may also cause perinatal lung disorders in some infants. One day the results of these studies may serve as a basis for individualized therapy and risk assessment; currently we are far from this goal.