title: Surfactant protein polymorphisms and neonatal lung disease.
abstract: Here, we describe the approach of defining the genetic contribution to disease and discuss the polymorphisms of some genes that are associated with respiratory disease. The common allelic variants of SP-A1, SP-A2, SP-B, SP-C, and SP-D genes are associated with respiratory distress syndrome (RDS), bronchopulmonary dysplasia (BPD), or respiratory syncytial virus (RSV) bronchiolitis. The main SP-A haplotype, interactively with SP-B Ile131Thr polymorphism and with constitutional and environmental factors, influences the risk of RDS. The polymorphisms of SP-A2 and SP-D are associated with the risk of severe RSV. The polymorphism may turn out to be important in susceptibility to influenza virus. The SP-B intron 4 deletion variant is the risk factor of BPD. Understanding the molecular mechanisms behind the hereditary risk may lead to new focused treatment strategies.
authors.affiliation: Department of Pediatrics and Biocenter Oulu, University of Oulu, Oulu, Finland. mikko.hallman@oulu.fi
authors.forename: Mikko
authors.initials: M
authors.lastname: Hallman
authors.forename: Ritva
authors.initials: R
authors.lastname: Haataja
mesh_terms: D020022:Genetic Predisposition to Disease; D006801:Humans; D057927:Hydrophobic and Hydrophilic Interactions; D007231:Infant, Newborn; D008954:Models, Biological; D011110:Polymorphism, Genetic; D037661:Pulmonary Surfactant-Associated Proteins / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D012127:Respiratory Distress Syndrome, Newborn / Q000235:genetics* / Q000503:physiopathology; D012307:Risk Factors
chemical_list: D037661:Pulmonary Surfactant-Associated Proteins