Genetic influences and neonatal lung disease.
Neonatal lung diseases may have a genetic background. The available studies mainly concentrate on surfactant proteins (SP-A, SP-B) and respiratory distress syndrome. Specific alleles of the SP-A and SP-B genes associate interactively with susceptibility to respiratory distress syndrome. This genetic impact on the condition is influenced by environmental, acquired and inherited factors. Other alleles and genotypes of SP-A and SP-D associate with severe respiratory infections in early infancy. Rare mutations causing an absence of the SP-B protein result in progressive respiratory failure. Dominant mutations of SP-C associate with chronic lung disease, with variable manifestations. The first steps towards unraveling the genetic network influencing the susceptibility to neonatal lung diseases are now being taken. Genes encoding multifunctional proteins in the distal lung are prime candidates for causing susceptibility to neonatal lung disease, including bronchopulmonary dysplasia.
Hallman
Mikko
M
Department of Pediatrics, University of Oulu, Kajaanintie 52A PL 5000, 90014, Oulu, Finland. mikko.hallman@oulu.fi
Haataja
Ritva
R
D020022:Genetic Predisposition to Disease; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D011110:Polymorphism, Genetic; D037662:Pulmonary Surfactant-Associated Protein A / Q000235:genetics; D037701:Pulmonary Surfactant-Associated Protein B / Q000235:genetics; D037661:Pulmonary Surfactant-Associated Proteins / Q000235:genetics*; D012127:Respiratory Distress Syndrome, Newborn / Q000235:genetics*
D037662:Pulmonary Surfactant-Associated Protein A; D037701:Pulmonary Surfactant-Associated Protein B; D037661:Pulmonary Surfactant-Associated Proteins