Surfactant proteins as genetic determinants of multifactorial pulmonary diseases.
Surfactant proteins, SP-A, SP-B, SP-C and SP-D, play important roles in pulmonary surfactant function and metabolism. SP-A and SP-D, being members of the collectin family of proteins, also interact with pathogens and are involved in pulmonary host defense. Respiratory diseases are among the most common causes of death worldwide. Several life-threatening lung diseases, such as neonatal respiratory distress syndrome (RDS) and acute ROS (ARDS), are associated with impaired surfactant function. Allelic variations of the SP-A and SP-B genes have been shown to be important genetic determinants in individual susceptibility to RDS, which is a good general model for a multifactorial pulmonary disease resulting from complex interactions between several environmental and genetic factors. Because SP-A and SP-D act directly in the clearance of common lung pathogens, the genes encoding these proteins have been implicated as candidates in a few infectious diseases, including respiratory syncytial virus (RSV) infections and tuberculosis.
Haataja
Ritva
R
Department of Paediatrics and Biocenter Oulu, University of Oulu, Finland. rhh@cc.oulu.fi
Hallman
Mikko
M
D000483:Alleles; D000818:Animals; D020022:Genetic Predisposition to Disease; D006801:Humans; D007231:Infant, Newborn; D008171:Lung Diseases / Q000235:genetics*; D011110:Polymorphism, Genetic; D037662:Pulmonary Surfactant-Associated Protein A / Q000235:genetics; D037661:Pulmonary Surfactant-Associated Proteins / Q000235:genetics*; D011663:Pulmonary Surfactants; D012127:Respiratory Distress Syndrome, Newborn / Q000235:genetics
D037662:Pulmonary Surfactant-Associated Protein A; D037661:Pulmonary Surfactant-Associated Proteins; D011663:Pulmonary Surfactants