Surfactant protein polymorphisms and neonatal lung disease.
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.
Hallman
Mikko
M
Department of Pediatrics and Biocenter Oulu, University of Oulu, Oulu, Finland. mikko.hallman@oulu.fi
Haataja
Ritva
R
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
D037661:Pulmonary Surfactant-Associated Proteins